A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604402



Internal ID16045125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104725659..104852695hg38UCSC Ensembl
Innerchr6:105173534..105300570hg19UCSC Ensembl
Innerchr6:105280227..105407263hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38127037
hg19127037
hg18127037
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154872
SamplesHGDP00169
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604402
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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