A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv907448



Internal ID16201404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42047686..42048679hg38UCSC Ensembl
Innerchr2:42274826..42275819hg19UCSC Ensembl
Innerchr2:42128330..42129323hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38994
hg19994
hg18994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581625
Supporting Variants
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv907448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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