A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549156



Internal ID18500751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29617342..29763021hg38UCSC Ensembl
Innerchr16:29628663..29774342hg19UCSC Ensembl
Innerchr16:29536164..29681843hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38145680
hg19145680
hg18145680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063706
Supporting Variants
Samples
Known GenesC16orf54, QPRT, SPN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3549156
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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