A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1058433



Internal ID15911619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47595030..47598108hg38UCSC Ensembl
Innerchr6:47562766..47565844hg19UCSC Ensembl
Innerchr6:47670725..47673803hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv603015
Supporting Variants
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1058433
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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