A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056083



Internal ID18798614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80602287..80632882hg38UCSC Ensembl
Innerchr16:80636184..80666779hg19UCSC Ensembl
Innerchr16:79193685..79224280hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3830596
hg1930596
hg1830596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3043n100
Supporting Variantsnssv3559786
Samples
Known GenesCDYL2, MIR548H4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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