nsv3874731
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:154,525
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 372 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3874731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,620,837 | 38,775,361 |
nsv3874731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,480,090 | 38,634,614 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15152202 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000512510.2, VCV000441753.2 | 3 |
nssv17955850 | copy number gain | Multiple | Multiple | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58; XLID58; Mental retardation 58, X-linked; See individual phenotypes in OMIM allelic variants; X linked non syndromic intellectual disability | not provided | ClinVar | RCV001787688.1, VCV001327408.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15152202 | Remapped | Perfect | NC_000023.11:g.(?_ 38620837)_(3877536 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,620,837 | 38,775,361 |
nssv17955850 | Remapped | Perfect | NC_000023.11:g.(?_ 38620837)_(3877536 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,620,837 | 38,775,361 |
nssv15152202 | Submitted genomic | NC_000023.10:g.(?_ 38480090)_(3863461 4_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,480,090 | 38,634,614 | ||
nssv17955850 | Submitted genomic | NC_000023.10:g.(?_ 38480090)_(3863461 4_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,480,090 | 38,634,614 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15152202 | GRCh37: NC_000023.10:g.(?_38480090)_(38634614_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000512510.2, VCV000441753.2 | 3 |
nssv17955850 | GRCh37: NC_000023.10:g.(?_38480090)_(38634614_?)dup | copy number gain | unknown | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58; XLID58; Mental retardation 58, X-linked; See individual phenotypes in OMIM allelic variants; X linked non syndromic intellectual disability | not provided | ClinVar | RCV001787688.1, VCV001327408.1 | 3 |