A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465993



Internal ID15526058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143472561..143497072hg38UCSC Ensembl
Innerchr8:144554731..144579242hg19UCSC Ensembl
Innerchr8:144625874..144650385hg18UCSC Ensembl
Innerchr8:144625874..144650385hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3824512
hg1924512
hg1824512
hg1724512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541653
SamplesHGDP00772
Known GenesZC3H3
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)nsv465993
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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