A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037993



Internal ID18780524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741198..14964489hg38UCSC Ensembl
Innerchr16:14835055..15058346hg19UCSC Ensembl
Innerchr16:14742556..14965847hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38223292
hg19223292
hg18223292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2740n100
Supporting Variantsnssv3557249
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037993
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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