A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046737



Internal ID18789268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794726..14969848hg38UCSC Ensembl
Innerchr16:14888583..15063705hg19UCSC Ensembl
Innerchr16:14796084..14971206hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38175123
hg19175123
hg18175123
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2746n100
Supporting Variantsnssv3557540, nssv3718905, nssv3557539
Samples
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046737
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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