A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586423



Internal ID16373832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61252260..61253165hg38UCSC Ensembl
Innerchr20:59827316..59828221hg19UCSC Ensembl
Innerchr20:59260711..59261616hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7639n54
Supporting Variantsnssv941947, nssv941943, nssv941942, nssv941948, nssv941946, nssv941945, nssv941944
Samples
Known GenesCDH4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586423
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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