A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465991



Internal ID15179370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143021076..143084012hg38UCSC Ensembl
Innerchr8:144102493..144165429hg19UCSC Ensembl
Innerchr8:144173868..144236804hg18UCSC Ensembl
Innerchr8:144173868..144236804hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3862937
hg1962937
hg1862937
hg1762937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541651
SamplesHGDP00949
Known GenesC8orf31, LY6E
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)nsv465991
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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