A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034156



Internal ID19123378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45482533..46223910hg38UCSC Ensembl
Innerchr5:45482635..46224012hg19UCSC Ensembl
Innerchr5:45518392..46259769hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38741378
hg19741378
hg18741378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5638n100
Supporting Variantsnssv3637110
Samples
Known GenesHCN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034156
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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