A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056438



Internal ID18798969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32047162..34009022hg38UCSC Ensembl
Innerchr16:32058483..33811489hg19UCSC Ensembl
Innerchr16:31965984..33718990hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381961861
hg191753007
hg181753007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2840n100
Supporting Variantsnssv3549316, nssv3549319, nssv3549318, nssv3549317
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056438
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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