A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043761



Internal ID18786292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16236621..16620138hg38UCSC Ensembl
Innerchr16:16330478..16713995hg19UCSC Ensembl
Innerchr16:16237979..16621496hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38383518
hg19383518
hg18383518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2777n100
Supporting Variantsnssv3558012
Samples
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043761
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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