A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581624



Internal ID16369033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42047686..42048586hg38UCSC Ensembl
Innerchr2:42274826..42275726hg19UCSC Ensembl
Innerchr2:42128330..42129230hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38901
hg19901
hg18901
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6820n54
Supporting Variantsnssv907445, nssv907444, nssv907443, nssv907446
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581624
Frequency
Sample Size17421
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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