A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060129



Internal ID19149348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47377393..47448400hg38UCSC Ensembl
Innerchr20:46006137..46077144hg19UCSC Ensembl
Innerchr20:45439544..45510551hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3871008
hg1971008
hg1871008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584945
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060129
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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