A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603028



Internal ID16390437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47597095..47598671hg38UCSC Ensembl
Innerchr6:47564831..47566407hg19UCSC Ensembl
Innerchr6:47672790..47674366hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10646n54
Supporting Variantsnssv1058558, nssv1058560, nssv1058561, nssv1058559
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603028
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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