A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059666



Internal ID18802197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23336930..23534157hg38UCSC Ensembl
Innerchr16:23348251..23545478hg19UCSC Ensembl
Innerchr16:23255752..23452979hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38197228
hg19197228
hg18197228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2826n100
Supporting Variantsnssv3549124
Samples
Known GenesCOG7, EARS2, GGA2, SCNN1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059666
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer