A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042329



Internal ID19131548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14794726..14966817hg38UCSC Ensembl
Innerchr16:14888583..15060674hg19UCSC Ensembl
Innerchr16:14796084..14968175hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38172092
hg19172092
hg18172092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2745n100
Supporting Variantsnssv3718904
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)nsv1042329
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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