A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462556



Internal ID15522621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176653429..176671532hg38UCSC Ensembl
Innerchr5:176080430..176098533hg19UCSC Ensembl
Innerchr5:176013036..176031139hg18UCSC Ensembl
Innerchr5:176013036..176031139hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3818104
hg1918104
hg1818104
hg1718104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538691
SamplesHGDP00815
Known GenesTSPAN17
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)nsv462556
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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