A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533439



Internal ID15510903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:82652622..82691491hg38UCSC Ensembl
Innerchr13:83226757..83265626hg19UCSC Ensembl
Innerchr13:82124758..82163627hg18UCSC Ensembl
Innerchr13:82124758..82163627hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3838870
hg1938870
hg1838870
hg1738870
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456016
Supporting Variants
SamplesHGDP01319
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)nssv533439
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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