nsv3909776
- 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:11,620,790
- Description:GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)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: 31066 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 30977 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 9048 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909776 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 97,272,349 | 108,893,138 |
| nsv3909776 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 97,737,905 | 109,435,760 |
| nsv3909776 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 97,510,493 | 109,237,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121689 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135333.3, VCV000146007.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121689 | Submitted genomic | NC_000001.11:g.(?_ 97272349)_(1088931 38_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 97,272,349 | 108,893,138 |
| nssv15121689 | Submitted genomic | NC_000001.10:g.(?_ 97737905)_(1094357 60_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 97,737,905 | 109,435,760 |
| nssv15121689 | Submitted genomic | NC_000001.9:g.(?_9 7510493)_(10923728 3_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 97,510,493 | 109,237,283 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121689 | GRCh37: NC_000001.10:g.(?_97737905)_(109435760_?)del, GRCh38: NC_000001.11:g.(?_97272349)_(108893138_?)del, NCBI36: NC_000001.9:g.(?_97510493)_(109237283_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135333.3, VCV000146007.1 | 1 |