nsv3923600
- 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:16,242,721
- Description:GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)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: 51021 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 51029 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14272 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923600 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 12,382,844 | 28,625,564 |
| nsv3923600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 12,240,353 | 28,483,081 |
| nsv3923600 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 12,284,724 | 28,539,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148855 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138244.5, VCV000149191.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148855 | Submitted genomic | NC_000008.11:g.(?_ 12382844)_(2862556 4_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 12,382,844 | 28,625,564 |
| nssv15148855 | Submitted genomic | NC_000008.10:g.(?_ 12240353)_(2848308 1_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,240,353 | 28,483,081 |
| nssv15148855 | Submitted genomic | NC_000008.9:g.(?_1 2284724)_(28539000 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,284,724 | 28,539,000 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148855 | GRCh37: NC_000008.10:g.(?_12240353)_(28483081_?)dup, GRCh38: NC_000008.11:g.(?_12382844)_(28625564_?)dup, NCBI36: NC_000008.9:g.(?_12284724)_(28539000_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000138244.5, VCV000149191.2 | 3 |