nsv6313997
- 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:154,132
- Description:GRCh37/hg19 12p13.1(chr12:14070549-14224680) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 476 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313997 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 13,917,615 | 14,071,746 |
| nsv6313997 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 14,070,549 | 14,224,680 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969507 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052971.3, VCV001527685.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969507 | Remapped | Perfect | NC_000012.12:g.(?_ 13917615)_(1407174 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 13,917,615 | 14,071,746 |
| nssv17969507 | Submitted genomic | NC_000012.11:g.(?_ 14070549)_(1422468 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 14,070,549 | 14,224,680 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969507 | GRCh37: NC_000012.11:g.(?_14070549)_(14224680_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052971.3, VCV001527685.3 |