A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063674



Internal ID18806205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62391262..62567701hg38UCSC Ensembl
Innerchr20:60966318..61164908hg19UCSC Ensembl
Innerchr20:60399713..60575353hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38176440
hg19198591
hg18175641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4343n100
Supporting Variantsnssv3584456
Samples
Known GenesC20orf166, C20orf166-AS1, CABLES2, GATA5, MIR1-1, MIR133A2, RBBP8NL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063674
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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