nsv3894585
- 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:29,859
- Description:GRCh38/hg38 Xq23(chrX:111318320-111348178)x3 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: 120 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3894585 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 111,318,320 | 111,348,178 |
| nsv3894585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 110,561,548 | 110,591,406 |
| nsv3894585 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 110,448,204 | 110,478,062 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137492 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141678.4, VCV000153209.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137492 | Submitted genomic | NC_000023.11:g.(?_ 111318320)_(111348 178_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 111,318,320 | 111,348,178 |
| nssv15137492 | Submitted genomic | NC_000023.10:g.(?_ 110561548)_(110591 406_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 110,561,548 | 110,591,406 |
| nssv15137492 | Submitted genomic | NC_000023.9:g.(?_1 10448204)_(1104780 62_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 110,448,204 | 110,478,062 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137492 | GRCh37: NC_000023.10:g.(?_110561548)_(110591406_?)dup, GRCh38: NC_000023.11:g.(?_111318320)_(111348178_?)dup, NCBI36: NC_000023.9:g.(?_110448204)_(110478062_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141678.4, VCV000153209.2 | 3 |