A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462227



Internal ID15522292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83544440..83575727hg38UCSC Ensembl
Innerchr5:82840259..82871546hg19UCSC Ensembl
Innerchr5:82876015..82907302hg18UCSC Ensembl
Innerchr5:82876015..82907302hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3831288
hg1931288
hg1831288
hg1731288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538444
Samples1780854464_A
Known GenesVCAN
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)nsv462227
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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