A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603022



Internal ID16390431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47597040..47598671hg38UCSC Ensembl
Innerchr6:47564776..47566407hg19UCSC Ensembl
Innerchr6:47672735..47674366hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381632
hg191632
hg181632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10646n54
Supporting Variantsnssv1058526, nssv1058511, nssv1058513, nssv1058520, nssv1058521, nssv1058516, nssv1058514, nssv1058510, nssv1058515, nssv1058528, nssv1058523, nssv1058509, nssv1058517, nssv1058518, nssv1058522, nssv1058507, nssv1058529, nssv1058530, nssv1058519, nssv1058508, nssv1058525, nssv1058506, nssv1058512, nssv1058524, nssv1058527
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603022
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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