nsv6637060
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,609,870
- Description:GRCh37/hg19 Xq27.1-27.3(chrX:139510129-145119351)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8993 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 8941 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637060 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 140,427,964 | 146,037,833 |
| nsv6637060 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 139,510,129 | 145,119,351 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330746 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472607.1, VCV001807801.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330746 | Remapped | Good | NC_000023.11:g.(?_ 140427964)_(146037 833_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 140,427,964 | 146,037,833 |
| nssv18330746 | Submitted genomic | NC_000023.10:g.(?_ 139510129)_(145119 351_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 139,510,129 | 145,119,351 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330746 | GRCh37: NC_000023.10:g.(?_139510129)_(145119351_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472607.1, VCV001807801.1 | 3 |