A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462523



Internal ID15175902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172048685..172096432hg38UCSC Ensembl
Innerchr5:171475689..171523436hg19UCSC Ensembl
Innerchr5:171408294..171456041hg18UCSC Ensembl
Innerchr5:171408294..171456041hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3847748
hg1947748
hg1847748
hg1747748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538665
Samples1780862520_A
Known GenesSTK10
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)nsv462523
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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