A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465732



Internal ID15525797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83616035..83648108hg38UCSC Ensembl
Innerchr8:84528270..84560343hg19UCSC Ensembl
Innerchr8:84690825..84722898hg18UCSC Ensembl
Innerchr8:84690825..84722898hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3832074
hg1932074
hg1832074
hg1732074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv894n27
Supporting Variantsnssv541482
SamplesHGDP00141
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)nsv465732
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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