A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062296



Internal ID19151515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32047162..32644190hg38UCSC Ensembl
Innerchr16:32058483..32655511hg19UCSC Ensembl
Innerchr16:31965984..32563012hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38597029
hg19597029
hg18597029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2836n100
Supporting Variantsnssv3549263, nssv3549264
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062296
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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