A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060968



Internal ID18803499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62392097..62561745hg38UCSC Ensembl
Innerchr20:60967153..61158952hg19UCSC Ensembl
Innerchr20:60400548..60569397hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38169649
hg19191800
hg18168850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4343n100
Supporting Variantsnssv3584458, nssv3584459, nssv3584460
Samples
Known GenesC20orf166, C20orf166-AS1, CABLES2, GATA5, MIR1-1, RBBP8NL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060968
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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