nsv3903514
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:299,321
- Description:
GRCh38/hg38 Xp22.33(chrX:585218-884538)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2554 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 2314 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903514 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 585,218 | 884,538 |
| nsv3903514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 545,953 | 803,877 |
| nsv3903514 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 465,953 | 765,273 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133680 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135702.5, VCV000146402.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133680 | Submitted genomic | NC_000023.11:g.(?_ 585218)_(884538_?) del | GRCh38 (hg38) | NC_000023.11 | ChrX | 585,218 | 884,538 |
| nssv15133680 | Submitted genomic | NC_000023.10:g.(?_ 545953)_(803877_?) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 545,953 | 803,877 |
| nssv15133680 | Submitted genomic | NC_000023.9:g.(?_4 65953)_(765273_?)d el | NCBI36 (hg18) | NC_000023.9 | ChrX | 465,953 | 765,273 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133680 | GRCh37: NC_000023.10:g.(?_545953)_(803877_?)del, GRCh38: NC_000023.11:g.(?_585218)_(884538_?)del, NCBI36: NC_000023.9:g.(?_465953)_(765273_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135702.5, VCV000146402.2 | 1 |