nsv3908884
- 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:2,288,668
- Description:GRCh38/hg38 1p34.2(chr1:40834404-43123071)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: 5248 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5248 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1216 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908884 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 40,834,404 | 43,123,071 |
| nsv3908884 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 41,300,076 | 43,588,742 |
| nsv3908884 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 41,072,663 | 43,361,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138336 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142267.4, VCV000154142.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138336 | Submitted genomic | NC_000001.11:g.(?_ 40834404)_(4312307 1_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 40,834,404 | 43,123,071 |
| nssv15138336 | Submitted genomic | NC_000001.10:g.(?_ 41300076)_(4358874 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 41,300,076 | 43,588,742 |
| nssv15138336 | Submitted genomic | NC_000001.9:g.(?_4 1072663)_(43361329 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 41,072,663 | 43,361,329 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138336 | GRCh37: NC_000001.10:g.(?_41300076)_(43588742_?)del, GRCh38: NC_000001.11:g.(?_40834404)_(43123071_?)del, NCBI36: NC_000001.9:g.(?_41072663)_(43361329_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142267.4, VCV000154142.2 | 1 |