A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603014



Internal ID16390423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47595030..47597926hg38UCSC Ensembl
Innerchr6:47562766..47565662hg19UCSC Ensembl
Innerchr6:47670725..47673621hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382897
hg192897
hg182897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10643n54
Supporting Variantsnssv1058432, nssv1058431
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603014
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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