nsv7148053
- 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:214,539
- Description:GRCh37/hg19 Xp11.23(chrX:48417285-48631851)x2 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: 585 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 583 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148053 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,558,897 | 48,773,435 |
| nsv7148053 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,417,285 | 48,631,851 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841870 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003327252.1, VCV002579112.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841870 | Remapped | Good | NC_000023.11:g.(?_ 48558897)_(4877343 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,558,897 | 48,773,435 |
| nssv18841870 | Submitted genomic | NC_000023.10:g.(?_ 48417285)_(4863185 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,417,285 | 48,631,851 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841870 | GRCh37: NC_000023.10:g.(?_48417285)_(48631851_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV003327252.1, VCV002579112.1 | 2 |