A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584944



Internal ID18536539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46498425..47439490hg38UCSC Ensembl
Innerchr20:45127064..46068234hg19UCSC Ensembl
Innerchr20:44560471..45501641hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38941066
hg19941171
hg18941171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061899
Supporting Variants
Samples
Known GenesEYA2, LOC100131496, MIR3616, OCSTAMP, SLC13A3, SLC2A10, TP53RK, ZMYND8, ZNF334
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3584944
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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