nsv3911233
- 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:209,735
- Description:GRCh38/hg38 7q11.22(chr7:69828711-70038445)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: 533 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 533 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911233 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 69,828,711 | 70,038,445 |
| nsv3911233 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 69,293,697 | 69,503,431 |
| nsv3911233 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 68,931,633 | 69,141,367 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120074 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134331.3, VCV000144927.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120074 | Submitted genomic | NC_000007.14:g.(?_ 69828711)_(7003844 5_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 69,828,711 | 70,038,445 |
| nssv15120074 | Submitted genomic | NC_000007.13:g.(?_ 69293697)_(6950343 1_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 69,293,697 | 69,503,431 |
| nssv15120074 | Submitted genomic | NC_000007.12:g.(?_ 68931633)_(6914136 7_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 68,931,633 | 69,141,367 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120074 | GRCh37: NC_000007.13:g.(?_69293697)_(69503431_?)del, GRCh38: NC_000007.14:g.(?_69828711)_(70038445_?)del, NCBI36: NC_000007.12:g.(?_68931633)_(69141367_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134331.3, VCV000144927.1 | 1 |