nsv3924585
- 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:28,155,540
- Description:GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)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: 93680 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 93468 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 24929 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924585 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 131,171,478 | 159,327,017 |
| nsv3924585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 130,856,237 | 159,119,707 |
| nsv3924585 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 130,506,777 | 158,812,468 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148270 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143754.5, VCV000155687.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148270 | Submitted genomic | NC_000007.14:g.(?_ 131171478)_(159327 017_?)dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 131,171,478 | 159,327,017 |
| nssv15148270 | Submitted genomic | NC_000007.13:g.(?_ 130856237)_(159119 707_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 130,856,237 | 159,119,707 |
| nssv15148270 | Submitted genomic | NC_000007.12:g.(?_ 130506777)_(158812 468_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 130,506,777 | 158,812,468 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148270 | GRCh37: NC_000007.13:g.(?_130856237)_(159119707_?)dup, GRCh38: NC_000007.14:g.(?_131171478)_(159327017_?)dup, NCBI36: NC_000007.12:g.(?_130506777)_(158812468_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143754.5, VCV000155687.2 | 3 |