nsv4674000
- 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:4,646,335
- Description:GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)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: 5531 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 5531 SVs from 77 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4674000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 106,730,093 | 111,376,427 |
nsv4674000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 105,973,323 | 110,619,655 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16208639 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001007332.1, VCV000816378.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16208639 | Remapped | Perfect | NC_000023.11:g.(?_ 106730093)_(111376 427_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 106,730,093 | 111,376,427 |
nssv16208639 | Submitted genomic | NC_000023.10:g.(?_ 105973323)_(110619 655_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 105,973,323 | 110,619,655 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16208639 | GRCh37: NC_000023.10:g.(?_105973323)_(110619655_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001007332.1, VCV000816378.1 | 1 |