A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462204



Internal ID15522269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64414728..64499640hg38UCSC Ensembl
Innerchr5:63710555..63795467hg19UCSC Ensembl
Innerchr5:63746311..63831223hg18UCSC Ensembl
Innerchr5:63746311..63831223hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3884913
hg1984913
hg1884913
hg1784913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538424
SamplesHGDP00774
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)nsv462204
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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