nsv6636424
- 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:498,922
- Description:GRCh37/hg19 2p16.1-15(chr2:61215497-61714418)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1533 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1533 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636424 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 60,988,362 | 61,487,283 |
| nsv6636424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 61,215,497 | 61,714,418 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329559 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472493.1, VCV001807687.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329559 | Remapped | Perfect | NC_000002.12:g.(?_ 60988362)_(6148728 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 60,988,362 | 61,487,283 |
| nssv18329559 | Submitted genomic | NC_000002.11:g.(?_ 61215497)_(6171441 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 61,215,497 | 61,714,418 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329559 | GRCh37: NC_000002.11:g.(?_61215497)_(61714418_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472493.1, VCV001807687.1 | 1 |