nsv3923852
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,123,202
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV000050781.7
- ClinVar: RCV000050782.5
- ClinVar: RCV000050783.8
- ClinVar: RCV000053229.7
- ClinVar: RCV000134082.4
- ClinVar: RCV000134755.4
- ClinVar: RCV000134756.4
- ClinVar: RCV000135583.4
- ClinVar: RCV000135744.4
- ClinVar: RCV000137945.4
- ClinVar: RCV000138132.4
- ClinVar: RCV000138133.5
- ClinVar: RCV000140240.4
- ClinVar: RCV000140871.4
- ClinVar: RCV000141251.4
- ClinVar: RCV000142713.4
- ClinVar: RCV000142795.4
- ClinVar: RCV000148061.4
- ClinVar: VCV000033584.2
- ClinVar: VCV000033590.2
- ClinVar: VCV000144122.2
- ClinVar: VCV000144613.2
- ClinVar: VCV000145366.2
- ClinVar: VCV000145368.2
- ClinVar: VCV000146278.2
- ClinVar: VCV000146448.2
- ClinVar: VCV000148881.2
- ClinVar: VCV000149074.2
- ClinVar: VCV000149075.2
- ClinVar: VCV000151535.2
- ClinVar: VCV000152290.2
- ClinVar: VCV000152733.2
- ClinVar: VCV000154646.2
- ClinVar: VCV000154728.2
- ClinVar: VCV000160796.1
- ClinVar: VCV000160971.1
- dbVar: nssv1494980
- dbVar: nssv1494988
- dbVar: nssv1601727
- dbVar: nssv1601985
- dbVar: nssv1603066
- dbVar: nssv1604223
- dbVar: nssv1608104
- dbVar: nssv1608174
- dbVar: nssv1609381
- dbVar: nssv1609382
- dbVar: nssv1610399
- dbVar: nssv3395949
- dbVar: nssv575704
- dbVar: nssv576131
- dbVar: nssv576965
- dbVar: nssv576966
- dbVar: nssv579682
- dbVar: nssv582436
- dbVar: nssv582700
- dbVar: nssv582704
- dbVar: nssv582861
- dbVar: nssv583191
- dbVar: nssv583896
- dbVar: nssv584343
- dbVar: nssv706288
- dbVar: nsv1067603
- dbVar: nsv492149
- dbVar: nsv497841
- dbVar: nsv529382
- dbVar: nsv530423
- dbVar: nsv531909
- dbVar: nsv534284
- dbVar: nsv869131
- dbVar: nsv869330
- dbVar: nsv931421
- dbVar: nsv932207
- dbVar: nsv932666
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 21945 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 22570 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 6406 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923852 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nsv3923852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,698,522 | 29,030,517 |
| nsv3923852 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 20,249,886 | 26,829,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145661 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050782.5, VCV000160971.1 | 3 |
| nssv15145807 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053229.7, VCV000033584.2 | 3 |
| nssv15145953 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140240.4, VCV000151535.2 | 1 |
| nssv15146035 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142713.4, VCV000154646.2 | 3 |
| nssv15146043 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142795.4, VCV000154728.2 | 1 |
| nssv15146195 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050781.7, VCV000144122.2 | 4 |
| nssv15146196 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050783.8, VCV000033590.2 | 1 |
| nssv15146645 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134755.4, VCV000145366.2 | 1 |
| nssv15146673 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135744.4, VCV000146448.2 | 1 |
| nssv15146797 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000148061.4, VCV000160796.1 | 1 |
| nssv15147450 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138132.4, VCV000149074.2 | 4 |
| nssv15147987 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134082.4, VCV000144613.2 | 1 |
| nssv15148007 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134756.4, VCV000145368.2 | 3 |
| nssv15148053 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135583.4, VCV000146278.2 | 4 |
| nssv15148834 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137945.4, VCV000148881.2 | 4 |
| nssv15148847 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138133.5, VCV000149075.2 | 3 |
| nssv15148907 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140871.4, VCV000152290.2 | 3 |
| nssv15148915 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141251.4, VCV000152733.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145661 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15145807 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15145953 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146035 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146043 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146195 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146196 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146645 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146673 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15146797 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15147450 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15147987 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148007 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148053 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148834 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148847 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148907 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15148915 | Submitted genomic | NC_000015.10:g.(?_ 22358243)_(2848144 4_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,358,243 | 28,481,444 |
| nssv15147987 | Submitted genomic | NC_000015.9:g.(?_2 2652047)_(28705151 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,652,047 | 28,705,151 |
| nssv15148053 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(28940098 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 28,940,098 |
| nssv15145661 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29030517 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,030,517 |
| nssv15146195 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29030517 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,030,517 |
| nssv15146196 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29030517 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,030,517 |
| nssv15146797 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29030517 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,030,517 |
| nssv15145807 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29085896 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,085,896 |
| nssv15146673 | Submitted genomic | NC_000015.9:g.(?_2 2698522)_(29085896 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,698,522 | 29,085,896 |
| nssv15146043 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(28912057 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 28,912,057 |
| nssv15148834 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(28912057 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 28,912,057 |
| nssv15145953 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(28940098 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 28,940,098 |
| nssv15148915 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(28976193 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 28,976,193 |
| nssv15147450 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(29006852 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 29,006,852 |
| nssv15148847 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(29006852 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 29,006,852 |
| nssv15146035 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(29085896 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 29,085,896 |
| nssv15148907 | Submitted genomic | NC_000015.9:g.(?_2 2765628)_(29096442 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,628 | 29,096,442 |
| nssv15146645 | Submitted genomic | NC_000015.9:g.(?_2 2765637)_(29085888 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,637 | 29,085,888 |
| nssv15148007 | Submitted genomic | NC_000015.9:g.(?_2 2765637)_(29085888 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,765,637 | 29,085,888 |
| nssv15147987 | Submitted genomic | NC_000015.8:g.(?_2 0203411)_(26524679 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,203,411 | 26,524,679 |
| nssv15148053 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26739139 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,739,139 |
| nssv15145661 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26829558 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,829,558 |
| nssv15146195 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26829558 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,829,558 |
| nssv15146196 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26829558 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,829,558 |
| nssv15146797 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26829558 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,829,558 |
| nssv15145807 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26884937 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,884,937 |
| nssv15146673 | Submitted genomic | NC_000015.8:g.(?_2 0249886)_(26884937 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,249,886 | 26,884,937 |
| nssv15146043 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26711098 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,711,098 |
| nssv15148834 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26711098 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,711,098 |
| nssv15145953 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26739139 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,739,139 |
| nssv15148915 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26775234 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,775,234 |
| nssv15147450 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26805893 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,805,893 |
| nssv15148847 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26805893 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,805,893 |
| nssv15146035 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26884937 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,884,937 |
| nssv15148907 | Submitted genomic | NC_000015.8:g.(?_2 0316992)_(26895483 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,316,992 | 26,895,483 |
| nssv15146645 | Submitted genomic | NC_000015.8:g.(?_2 0317001)_(26884929 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,317,001 | 26,884,929 |
| nssv15148007 | Submitted genomic | NC_000015.8:g.(?_2 0317001)_(26884929 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,317,001 | 26,884,929 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145661 | GRCh37: NC_000015.9:g.(?_22698522)_(29030517_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20249886)_(26829558_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050782.5, VCV000160971.1 | 3 |
| nssv15145807 | GRCh37: NC_000015.9:g.(?_22698522)_(29085896_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20249886)_(26884937_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053229.7, VCV000033584.2 | 3 |
| nssv15145953 | GRCh37: NC_000015.9:g.(?_22765628)_(28940098_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20316992)_(26739139_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140240.4, VCV000151535.2 | 1 |
| nssv15146035 | GRCh37: NC_000015.9:g.(?_22765628)_(29085896_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20316992)_(26884937_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142713.4, VCV000154646.2 | 3 |
| nssv15146043 | GRCh37: NC_000015.9:g.(?_22765628)_(28912057_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20316992)_(26711098_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000142795.4, VCV000154728.2 | 1 |
| nssv15146195 | GRCh37: NC_000015.9:g.(?_22698522)_(29030517_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20249886)_(26829558_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050781.7, VCV000144122.2 | 4 |
| nssv15146196 | GRCh37: NC_000015.9:g.(?_22698522)_(29030517_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20249886)_(26829558_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050783.8, VCV000033590.2 | 1 |
| nssv15146645 | GRCh37: NC_000015.9:g.(?_22765637)_(29085888_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20317001)_(26884929_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134755.4, VCV000145366.2 | 1 |
| nssv15146673 | GRCh37: NC_000015.9:g.(?_22698522)_(29085896_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20249886)_(26884937_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135744.4, VCV000146448.2 | 1 |
| nssv15146797 | GRCh37: NC_000015.9:g.(?_22698522)_(29030517_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20249886)_(26829558_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000148061.4, VCV000160796.1 | 1 |
| nssv15147450 | GRCh37: NC_000015.9:g.(?_22765628)_(29006852_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20316992)_(26805893_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138132.4, VCV000149074.2 | 4 |
| nssv15147987 | GRCh37: NC_000015.9:g.(?_22652047)_(28705151_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20203411)_(26524679_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134082.4, VCV000144613.2 | 1 |
| nssv15148007 | GRCh37: NC_000015.9:g.(?_22765637)_(29085888_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20317001)_(26884929_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134756.4, VCV000145368.2 | 3 |
| nssv15148053 | GRCh37: NC_000015.9:g.(?_22698522)_(28940098_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20249886)_(26739139_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135583.4, VCV000146278.2 | 4 |
| nssv15148834 | GRCh37: NC_000015.9:g.(?_22765628)_(28912057_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20316992)_(26711098_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137945.4, VCV000148881.2 | 4 |
| nssv15148847 | GRCh37: NC_000015.9:g.(?_22765628)_(29006852_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20316992)_(26805893_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138133.5, VCV000149075.2 | 3 |
| nssv15148907 | GRCh37: NC_000015.9:g.(?_22765628)_(29096442_?)dup, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)dup, NCBI36: NC_000015.8:g.(?_20316992)_(26895483_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000140871.4, VCV000152290.2 | 3 |
| nssv15148915 | GRCh37: NC_000015.9:g.(?_22765628)_(28976193_?)del, GRCh38: NC_000015.10:g.(?_22358243)_(28481444_?)del, NCBI36: NC_000015.8:g.(?_20316992)_(26775234_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141251.4, VCV000152733.2 | 1 |