nsv6637054
- 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:9,362,694
- Description:GRCh37/hg19 Xq27.1-28(chrX:139493806-148855992)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: 15013 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 14962 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637054 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 140,411,641 | 149,774,334 |
| nsv6637054 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 139,493,806 | 148,855,992 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330256 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474516.1, VCV001808671.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330256 | Remapped | Good | NC_000023.11:g.(?_ 140411641)_(149774 334_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 140,411,641 | 149,774,334 |
| nssv18330256 | Submitted genomic | NC_000023.10:g.(?_ 139493806)_(148855 992_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 139,493,806 | 148,855,992 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330256 | GRCh37: NC_000023.10:g.(?_139493806)_(148855992_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474516.1, VCV001808671.1 | 1 |