A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581612



Internal ID16369021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42047426..42048400hg38UCSC Ensembl
Innerchr2:42274566..42275540hg19UCSC Ensembl
Innerchr2:42128070..42129044hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38975
hg19975
hg18975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6818n54
Supporting Variantsnssv907427, nssv907426
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581612
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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