A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064308



Internal ID18806839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84461124..84592674hg38UCSC Ensembl
Innerchr16:84494730..84626280hg19UCSC Ensembl
Innerchr16:83052231..83183781hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38131551
hg19131551
hg18131551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719112
Samples
Known GenesATP2C2, COTL1, TLDC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064308
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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