A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059227



Internal ID18801758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84029323..84233403hg38UCSC Ensembl
Innerchr16:84062928..84267009hg19UCSC Ensembl
Innerchr16:82620429..82824510hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38204081
hg19204082
hg18204082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559946
Samples
Known GenesADAD2, DNAAF1, HSDL1, KCNG4, MBTPS1, SLC38A8, TAF1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059227
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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