nsv3912038
- 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:6,553,025
- Description:GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1 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: 16421 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 16422 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 4342 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 35,460,776 | 42,013,800 |
| nsv3912038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 35,500,386 | 42,053,399 |
| nsv3912038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 35,466,911 | 42,019,924 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147453 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138190.5, VCV000149132.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147453 | Submitted genomic | NC_000007.14:g.(?_ 35460776)_(4201380 0_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 35,460,776 | 42,013,800 |
| nssv15147453 | Submitted genomic | NC_000007.13:g.(?_ 35500386)_(4205339 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 35,500,386 | 42,053,399 |
| nssv15147453 | Submitted genomic | NC_000007.12:g.(?_ 35466911)_(4201992 4_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 35,466,911 | 42,019,924 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147453 | GRCh37: NC_000007.13:g.(?_35500386)_(42053399_?)del, GRCh38: NC_000007.14:g.(?_35460776)_(42013800_?)del, NCBI36: NC_000007.12:g.(?_35466911)_(42019924_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138190.5, VCV000149132.2 | 1 |