A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056719



Internal ID18799250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55788045..55845205hg38UCSC Ensembl
Innerchr16:55821957..55879117hg19UCSC Ensembl
Innerchr16:54379458..54436618hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3857161
hg1957161
hg1857161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2987n100
Supporting Variantsnssv3559341, nssv3559340
Samples
Known GenesCES1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056719
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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