nsv3880554
- 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:94,741
- Description:GRCh37/hg19 Xq28(chrX:152770714-152865451)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: 267 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 46 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3880554 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 153,505,256 | 153,599,996 |
nsv3880554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,770,714 | 152,865,451 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15175504 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000753921.2, VCV000617285.2 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15175504 | Remapped | Good | NC_000023.11:g.(?_ 153505256)_(153599 996_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 153,505,256 | 153,599,996 |
nssv15175504 | Submitted genomic | NC_000023.10:g.(?_ 152770714)_(152865 451_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,770,714 | 152,865,451 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15175504 | GRCh37: NC_000023.10:g.(?_152770714)_(152865451_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000753921.2, VCV000617285.2 | 2 |