A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057333



Internal ID18799864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:15088323..16315570hg38UCSC Ensembl
Innerchr20:15068969..16296215hg19UCSC Ensembl
Innerchr20:15016969..16244215hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381227248
hg191227247
hg181227247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599621
Samples
Known GenesKIF16B, MACROD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057333
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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