A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv943746



Internal ID15891016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63460989..63522433hg38UCSC Ensembl
Innerchr20:62092342..62153786hg19UCSC Ensembl
Innerchr20:61562786..61624230hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3861445
hg1961445
hg1861445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586566
Supporting Variants
Samples
Known GenesEEF1A2, KCNQ2, PPDPF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv943746
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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