A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581614



Internal ID16369023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42047426..42049781hg38UCSC Ensembl
Innerchr2:42274566..42276921hg19UCSC Ensembl
Innerchr2:42128070..42130425hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382356
hg192356
hg182356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv907429
Samples
Known GenesPKDCC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581614
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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