A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065413



Internal ID19154632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:35224654..35533628hg38UCSC Ensembl
Innerchr16:34459025..34767999hg19UCSC Ensembl
Innerchr16:34316526..34625500hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38308975
hg19308975
hg18308975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2962n100
Supporting Variantsnssv3556092
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065413
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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