A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056975



Internal ID19146194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33724141..34208804hg38UCSC Ensembl
Innerchr16:33526608..34011271hg19UCSC Ensembl
Innerchr16:33434109..33918772hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38484664
hg19484664
hg18484664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2946n100
Supporting Variantsnssv3555698
Samples
Known GenesLINC00273, RNU6-76P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056975
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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