A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584771



Internal ID18536366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38088361..38226717hg38UCSC Ensembl
Innerchr20:36716763..36855119hg19UCSC Ensembl
Innerchr20:36150177..36288533hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38138357
hg19138357
hg18138357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066774
Supporting Variants
Samples
Known GenesKIAA1755, RPRD1B, TGM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3584771
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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