A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066673



Internal ID18809204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35840156..36398197hg38UCSC Ensembl
Innerchr20:34428078..35026600hg19UCSC Ensembl
Innerchr20:33891492..34460014hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38558042
hg19598523
hg18568523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584753
Samples
Known GenesAAR2, CNBD2, DLGAP4, EPB41L1, LINC00657, PHF20, SCAND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066673
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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