A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056216



Internal ID19145435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61589632..61623010hg38UCSC Ensembl
Innerchr20:60164688..60198066hg19UCSC Ensembl
Innerchr20:59598083..59631461hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3833379
hg1933379
hg1833379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584455
Samples
Known GenesCDH4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056216
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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