A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066719



Internal ID18809250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:52261069..53107993hg38UCSC Ensembl
Innerchr16:52294981..53141905hg19UCSC Ensembl
Innerchr16:50852482..51699406hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38846925
hg19846925
hg18846925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3722708
Samples
Known GenesCASC16, CHD9, TOX3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066719
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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