A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462386



Internal ID15522451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112331875..112363620hg38UCSC Ensembl
Innerchr5:111667572..111699317hg19UCSC Ensembl
Innerchr5:111695471..111727216hg18UCSC Ensembl
Innerchr5:111695471..111727216hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3831746
hg1931746
hg1831746
hg1731746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538561
SamplesHGDP00732
Known GenesEPB41L4A
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)nsv462386
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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