nsv3899148
- 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:96,599
- Description:GRCh38/hg38 Xp21.1(chrX:32662366-32758964)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: 362 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 52 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 |
|---|---|---|---|---|---|---|---|
| nsv3899148 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 32,662,366 | 32,758,964 |
| nsv3899148 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,680,483 | 32,777,081 |
| nsv3899148 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 32,590,404 | 32,687,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121104 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052389.4, VCV000058614.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121104 | Submitted genomic | NC_000023.11:g.(?_ 32662366)_(3275896 4_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 32,662,366 | 32,758,964 |
| nssv15121104 | Submitted genomic | NC_000023.10:g.(?_ 32680483)_(3277708 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,680,483 | 32,777,081 |
| nssv15121104 | Submitted genomic | NC_000023.9:g.(?_3 2590404)_(32687002 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 32,590,404 | 32,687,002 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121104 | GRCh37: NC_000023.10:g.(?_32680483)_(32777081_?)dup, GRCh38: NC_000023.11:g.(?_32662366)_(32758964_?)dup, NCBI36: NC_000023.9:g.(?_32590404)_(32687002_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052389.4, VCV000058614.1 | 2 |