A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054720



Internal ID19143939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:33291822..33380245hg38UCSC Ensembl
Innerchr11:33313368..33401791hg19UCSC Ensembl
Innerchr11:33269944..33358367hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3888424
hg1988424
hg1888424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3521231
Samples
Known GenesHIPK3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054720
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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