nsv4454214
- 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:32,213,873
- Description:GRCh37/hg19 Xq25-28(chrX:122924044-155233731)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: 49788 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 49671 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454214 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 123,790,194 | 156,004,066 |
| nsv4454214 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 122,924,044 | 155,233,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773174 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849097.2, VCV000688406.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773174 | Remapped | Good | NC_000023.11:g.(?_ 123790194)_(156004 066_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 123,790,194 | 156,004,066 |
| nssv15773174 | Submitted genomic | NC_000023.10:g.(?_ 122924044)_(155233 731_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 122,924,044 | 155,233,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773174 | GRCh37: NC_000023.10:g.(?_122924044)_(155233731_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000849097.2, VCV000688406.2 | 1 |