A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064842



Internal ID19154061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:34962968..35237904hg38UCSC Ensembl
Innerchr16:34197339..34472275hg19UCSC Ensembl
Innerchr16:34054840..34329776hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38274937
hg19274937
hg18274937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2961n100
Supporting Variantsnssv3722210, nssv3722209
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)nsv1064842
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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