nsv6314030
- 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:95,354,106
- Description:GRCh37/hg19 13q11-34(chr13:19436286-114981726) 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: 263456 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 263385 SVs from 151 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314030 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 18,862,146 | 114,216,251 |
| nsv6314030 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 19,436,286 | 114,981,726 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969571 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053035.3, VCV001527749.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969571 | Remapped | Good | NC_000013.11:g.(?_ 18862146)_(1142162 51_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 18,862,146 | 114,216,251 |
| nssv17969571 | Submitted genomic | NC_000013.10:g.(?_ 19436286)_(1149817 26_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 19,436,286 | 114,981,726 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969571 | GRCh37: NC_000013.10:g.(?_19436286)_(114981726_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053035.3, VCV001527749.3 |