A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056182



Internal ID19145401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33535645..34061880hg38UCSC Ensembl
Innerchr16:33338112..33864347hg19UCSC Ensembl
Innerchr16:33245613..33771848hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38526236
hg19526236
hg18526236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2915n100
Supporting Variantsnssv3717446, nssv3553275
Samples
Known GenesRNU6-76P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056182
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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