nsv3905799
- 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:569,640
- Description:GRCh38/hg38 Xq28(chrX:149176559-149746198)x2 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: 865 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 861 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905799 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 149,176,559 | 149,746,198 |
| nsv3905799 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 148,258,089 | 148,827,859 |
| nsv3905799 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 148,065,733 | 148,635,671 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138951 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141986.4, VCV000153685.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138951 | Submitted genomic | NC_000023.11:g.(?_ 149176559)_(149746 198_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 149,176,559 | 149,746,198 |
| nssv15138951 | Submitted genomic | NC_000023.10:g.(?_ 148258089)_(148827 859_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 148,258,089 | 148,827,859 |
| nssv15138951 | Submitted genomic | NC_000023.9:g.(?_1 48065733)_(1486356 71_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 148,065,733 | 148,635,671 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138951 | GRCh37: NC_000023.10:g.(?_148258089)_(148827859_?)dup, GRCh38: NC_000023.11:g.(?_149176559)_(149746198_?)dup, NCBI36: NC_000023.9:g.(?_148065733)_(148635671_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141986.4, VCV000153685.2 | 2 |