nsv3919858
- 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:233,116
- Description:GRCh38/hg38 7q21.3(chr7:96924153-97157268)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: 522 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 522 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919858 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 96,924,153 | 97,157,268 |
| nsv3919858 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 96,553,465 | 96,786,580 |
| nsv3919858 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 96,391,401 | 96,624,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138492 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140903.5, VCV000152344.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138492 | Submitted genomic | NC_000007.14:g.(?_ 96924153)_(9715726 8_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 96,924,153 | 97,157,268 |
| nssv15138492 | Submitted genomic | NC_000007.13:g.(?_ 96553465)_(9678658 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 96,553,465 | 96,786,580 |
| nssv15138492 | Submitted genomic | NC_000007.12:g.(?_ 96391401)_(9662451 6_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 96,391,401 | 96,624,516 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138492 | GRCh37: NC_000007.13:g.(?_96553465)_(96786580_?)del, GRCh38: NC_000007.14:g.(?_96924153)_(97157268_?)del, NCBI36: NC_000007.12:g.(?_96391401)_(96624516_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000140903.5, VCV000152344.2 | 1 |