nsv4452638
- 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:1,007,318
- Description:GRCh37/hg19 Xq21.2-21.31(chrX:85632464-86639781)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: 1839 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1839 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4452638 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 86,377,461 | 87,384,778 |
nsv4452638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 85,632,464 | 86,639,781 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774962 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846632.2, VCV000685924.2 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774962 | Remapped | Perfect | NC_000023.11:g.(?_ 86377461)_(8738477 8_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 86,377,461 | 87,384,778 |
nssv15774962 | Submitted genomic | NC_000023.10:g.(?_ 85632464)_(8663978 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 85,632,464 | 86,639,781 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774962 | GRCh37: NC_000023.10:g.(?_85632464)_(86639781_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846632.2, VCV000685924.2 | 2 |