A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056243



Internal ID19145462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:19507233..19523827hg38UCSC Ensembl
Innerchr20:19487877..19504471hg19UCSC Ensembl
Innerchr20:19435877..19452471hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3816595
hg1916595
hg1816595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584649
Samples
Known GenesSLC24A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056243
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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