A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065790



Internal ID18808321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83830329..84243597hg38UCSC Ensembl
Innerchr16:83863934..84277203hg19UCSC Ensembl
Innerchr16:82421435..82834704hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38413269
hg19413270
hg18413270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559942
Samples
Known GenesADAD2, DNAAF1, HSDL1, KCNG4, MBTPS1, MLYCD, NECAB2, OSGIN1, 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)nsv1065790
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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