A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603015



Internal ID16390424
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 StatusM
Merged Variantsdgv10643n54
Supporting Variantsnssv1058433, nssv1058434
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603015
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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