nsv6291061
- 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:1,534,425
- Description:GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)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: 4485 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 4374 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291061 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 10,881,055 | 12,415,479 |
| nsv6291061 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 10,922,740 | 12,456,978 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957405 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001827612.1, VCV001340006.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957405 | Remapped | Good | NC_000003.12:g.(?_ 10881055)_(1241547 9_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 10,881,055 | 12,415,479 |
| nssv17957405 | Submitted genomic | NC_000003.11:g.(?_ 10922740)_(1245697 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 10,922,740 | 12,456,978 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957405 | GRCh37: NC_000003.11:g.(?_10922740)_(12456978_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001827612.1, VCV001340006.1 | 1 |