nsv3905740
- 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:94,777
- Description:GRCh38/hg38 Xp21.2-21.1(chrX:31431098-31525874)x0 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: 343 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 24 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 |
|---|---|---|---|---|---|---|---|
| nsv3905740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,431,098 | 31,525,874 |
| nsv3905740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,449,215 | 31,543,991 |
| nsv3905740 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,359,136 | 31,453,912 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133311 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133848.4, VCV000144366.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133311 | Submitted genomic | NC_000023.11:g.(?_ 31431098)_(3152587 4_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,431,098 | 31,525,874 |
| nssv15133311 | Submitted genomic | NC_000023.10:g.(?_ 31449215)_(3154399 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,449,215 | 31,543,991 |
| nssv15133311 | Submitted genomic | NC_000023.9:g.(?_3 1359136)_(31453912 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,359,136 | 31,453,912 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133311 | GRCh37: NC_000023.10:g.(?_31449215)_(31543991_?)del, GRCh38: NC_000023.11:g.(?_31431098)_(31525874_?)del, NCBI36: NC_000023.9:g.(?_31359136)_(31453912_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000133848.4, VCV000144366.2 | 0 |