A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585943



Internal ID16373352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35247970..35297352hg38UCSC Ensembl
Innerchr20:33835773..33885155hg19UCSC Ensembl
Innerchr20:33299189..33348569hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3849383
hg1949383
hg1849381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv939330
Samples
Known GenesEIF6, FAM83C, MMP24, MMP24-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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