nsv3872420
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:42,068
- Description:Single allele 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: 631 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 72341 SVs from 112 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3872420 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 619,344 | 661,411 |
| nsv3872420 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000024.10 | ChrY | 619,344 | 661,411 |
| nsv3872420 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 70,297 | 39,353,364 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151656 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000677927.2, VCV000560050.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15151656 | Submitted genomic | NC_000023.11:g.619 344_661411delNC_00 0024.10:g.619344_6 61411del | GRCh38 (hg38) | NC_000023.11 | ChrX | 619,344 | 661,411 |
| nssv15151656 | Submitted genomic | NC_000023.11:g.619 344_661411delNC_00 0024.10:g.619344_6 61411del | GRCh38 (hg38) | NC_000024.10 | ChrY | 619,344 | 661,411 |
| nssv15151656 | Submitted genomic | NC_000023.10:g.702 97_39353364del | GRCh37 (hg19) | NC_000023.10 | ChrX | 70,297 | 39,353,364 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151656 | GRCh37: NC_000023.10:g.70297_39353364del, GRCh38: NC_000023.11:g.619344_661411delNC_000024.10:g.619344_661411del | deletion | de novo | not provided | Pathogenic | ClinVar | RCV000677927.2, VCV000560050.2 | 1 |