A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063819



Internal ID19153038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:34962968..35257961hg38UCSC Ensembl
Innerchr16:34197339..34492332hg19UCSC Ensembl
Innerchr16:34054840..34349833hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38294994
hg19294994
hg18294994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2961n100
Supporting Variantsnssv3556013
Samples
Known GenesUBE2MP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063819
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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