A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584747



Internal ID18536342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35487158..35555321hg38UCSC Ensembl
Innerchr20:34074984..34143092hg19UCSC Ensembl
Innerchr20:33538398..33606506hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3868164
hg1968109
hg1868109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062839
Supporting Variants
Samples
Known GenesC20orf173, CEP250, ERGIC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3584747
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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