nsv3918722
- 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:10,510,314
- Description:GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)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: 29994 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 29832 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 7353 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 |
|---|---|---|---|---|---|---|---|
| nsv3918722 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 71,225,344 | 81,735,657 |
| nsv3918722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 70,690,330 | 81,364,973 |
| nsv3918722 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 70,328,266 | 81,202,909 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146320 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050709.4, VCV000057096.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146320 | Submitted genomic | NC_000007.14:g.(?_ 71225344)_(8173565 7_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 71,225,344 | 81,735,657 |
| nssv15146320 | Submitted genomic | NC_000007.13:g.(?_ 70690330)_(8136497 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 70,690,330 | 81,364,973 |
| nssv15146320 | Submitted genomic | NC_000007.12:g.(?_ 70328266)_(8120290 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 70,328,266 | 81,202,909 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146320 | GRCh37: NC_000007.13:g.(?_70690330)_(81364973_?)del, GRCh38: NC_000007.14:g.(?_71225344)_(81735657_?)del, NCBI36: NC_000007.12:g.(?_70328266)_(81202909_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050709.4, VCV000057096.1 | 1 |