nsv6313595
- 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:5,591,741
- Description:GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639) 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: 12589 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 12590 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 132,696,210 | 138,287,950 |
| nsv6313595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 132,031,902 | 137,623,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970058 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053530.3, VCV001527198.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970058 | Remapped | Perfect | NC_000005.10:g.(?_ 132696210)_(138287 950_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 132,696,210 | 138,287,950 |
| nssv17970058 | Submitted genomic | NC_000005.9:g.(?_1 32031902)_(1376236 39_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 132,031,902 | 137,623,639 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970058 | GRCh37: NC_000005.9:g.(?_132031902)_(137623639_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053530.3, VCV001527198.3 |