nsv3923414
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:24,460,884
- Description:GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 57810 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 57803 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 13936 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 |
|---|---|---|---|---|---|---|---|
| nsv3923414 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 130,860,928 | 155,321,811 |
| nsv3923414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 130,196,621 | 154,701,371 |
| nsv3923414 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 130,224,520 | 154,681,564 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146225 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051193.5, VCV000057483.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146225 | Submitted genomic | NC_000005.10:g.(?_ 130860928)_(155321 811_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 130,860,928 | 155,321,811 |
| nssv15146225 | Submitted genomic | NC_000005.9:g.(?_1 30196621)_(1547013 71_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 130,196,621 | 154,701,371 |
| nssv15146225 | Submitted genomic | NC_000005.8:g.(?_1 30224520)_(1546815 64_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 130,224,520 | 154,681,564 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146225 | GRCh37: NC_000005.9:g.(?_130196621)_(154701371_?)dup, GRCh38: NC_000005.10:g.(?_130860928)_(155321811_?)dup, NCBI36: NC_000005.8:g.(?_130224520)_(154681564_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051193.5, VCV000057483.1 | 3 |