A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603692



Internal ID16391101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:72660011..72697166hg38UCSC Ensembl
Innerchr6:73369739..73406890hg19UCSC Ensembl
Innerchr6:73426460..73463611hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3837156
hg1937152
hg1837152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154319
SamplesHGDP01352
Known GenesKCNQ5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603692
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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