nsv3971975
- 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:9,893,274
- Description:GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)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: 21663 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 21664 SVs from 111 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3971975 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 127,042,027 | 136,935,300 |
| nsv3971975 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 126,377,719 | 136,270,989 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223194 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000762739.3, VCV000624508.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223194 | Remapped | Perfect | NC_000005.10:g.(?_ 127042027)_(136935 300_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 127,042,027 | 136,935,300 |
| nssv15223194 | Submitted genomic | NC_000005.9:g.(?_1 26377719)_(1362709 89_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 126,377,719 | 136,270,989 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223194 | GRCh37: NC_000005.9:g.(?_126377719)_(136270989_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000762739.3, VCV000624508.3 | 1 |