A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612327



Internal ID16399736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132279250..132307551hg38UCSC Ensembl
Innerchr8:133291497..133319798hg19UCSC Ensembl
Innerchr8:133360679..133388980hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3828302
hg1928302
hg1828302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156644
SamplesHGDP01003
Known GenesKCNQ3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612327
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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