nsv3901925
- 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:82,865
- Description:GRCh38/hg38 Xp21.1(chrX:31518960-31601824)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: 291 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,518,960 | 31,601,824 |
| nsv3901925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,537,077 | 31,619,941 |
| nsv3901925 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,446,998 | 31,529,862 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132783 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134793.4, VCV000145412.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132783 | Submitted genomic | NC_000023.11:g.(?_ 31518960)_(3160182 4_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,518,960 | 31,601,824 |
| nssv15132783 | Submitted genomic | NC_000023.10:g.(?_ 31537077)_(3161994 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,537,077 | 31,619,941 |
| nssv15132783 | Submitted genomic | NC_000023.9:g.(?_3 1446998)_(31529862 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,446,998 | 31,529,862 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132783 | GRCh37: NC_000023.10:g.(?_31537077)_(31619941_?)dup, GRCh38: NC_000023.11:g.(?_31518960)_(31601824_?)dup, NCBI36: NC_000023.9:g.(?_31446998)_(31529862_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134793.4, VCV000145412.2 | 2 |