nsv3891337
- 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:32,143
- Description:
GRCh38/hg38 Xp22.31(chrX:7227318-7259460)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: 393 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 393 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 43 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 |
|---|---|---|---|---|---|---|---|
| nsv3891337 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 7,227,318 | 7,259,460 |
| nsv3891337 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,145,359 | 7,177,501 |
| nsv3891337 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 7,155,359 | 7,187,501 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136155 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136599.4, VCV000147405.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136155 | Submitted genomic | NC_000023.11:g.(?_ 7227318)_(7259460_ ?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 7,227,318 | 7,259,460 |
| nssv15136155 | Submitted genomic | NC_000023.10:g.(?_ 7145359)_(7177501_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,145,359 | 7,177,501 |
| nssv15136155 | Submitted genomic | NC_000023.9:g.(?_7 155359)_(7187501_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 7,155,359 | 7,187,501 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136155 | GRCh37: NC_000023.10:g.(?_7145359)_(7177501_?)del, GRCh38: NC_000023.11:g.(?_7227318)_(7259460_?)del, NCBI36: NC_000023.9:g.(?_7155359)_(7187501_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136599.4, VCV000147405.2 | 0 |