A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586171



Internal ID16026894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49460077..49498698hg38UCSC Ensembl
Innerchr20:48076614..48115235hg19UCSC Ensembl
Innerchr20:47510021..47548642hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3838622
hg1938622
hg1838622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv940978
Samples
Known GenesKCNB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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