nsv3877071
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,254,617
- Description:GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)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: 27365 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 27317 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3877071 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 233,586,616 | 241,841,232 |
| nsv3877071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 234,495,262 | 242,783,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151248 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512077.2, VCV000443370.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151248 | Remapped | Good | NC_000002.12:g.(?_ 233586616)_(241841 232_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 233,586,616 | 241,841,232 |
| nssv15151248 | Submitted genomic | NC_000002.11:g.(?_ 234495262)_(242783 384_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 234,495,262 | 242,783,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151248 | GRCh37: NC_000002.11:g.(?_234495262)_(242783384_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512077.2, VCV000443370.2 | 1 |