nsv3914094
- 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:11,226,250
- Description:GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)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: 25678 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 25679 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 6610 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914094 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 84,002,634 | 95,228,883 |
| nsv3914094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 83,631,950 | 94,858,195 |
| nsv3914094 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 83,469,886 | 94,696,131 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139860 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143271.5, VCV000155204.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139860 | Submitted genomic | NC_000007.14:g.(?_ 84002634)_(9522888 3_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 84,002,634 | 95,228,883 |
| nssv15139860 | Submitted genomic | NC_000007.13:g.(?_ 83631950)_(9485819 5_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 83,631,950 | 94,858,195 |
| nssv15139860 | Submitted genomic | NC_000007.12:g.(?_ 83469886)_(9469613 1_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 83,469,886 | 94,696,131 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139860 | GRCh37: NC_000007.13:g.(?_83631950)_(94858195_?)del, GRCh38: NC_000007.14:g.(?_84002634)_(95228883_?)del, NCBI36: NC_000007.12:g.(?_83469886)_(94696131_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143271.5, VCV000155204.2 | 1 |