A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538551



Internal ID15508903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83131618..83251276hg38UCSC Ensembl
Innerchr1:83597301..83716959hg19UCSC Ensembl
Innerchr1:83369889..83489547hg18UCSC Ensembl
Innerchr1:83309322..83428980hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38119659
hg19119659
hg18119659
hg17119659
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462372
Supporting Variants
SamplesHGDP00913
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538551
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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