A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541466



Internal ID15508209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:72773297..72849970hg38UCSC Ensembl
Innerchr8:73685532..73762205hg19UCSC Ensembl
Innerchr8:73848086..73924759hg18UCSC Ensembl
Innerchr8:73848086..73924759hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3876674
hg1976674
hg1876674
hg1776674
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465715
Supporting Variants
SamplesHGDP00782
Known GenesKCNB2
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)nssv541466
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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