A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064648



Internal ID19153867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32102349..32619935hg38UCSC Ensembl
Innerchr16:32113670..32631256hg19UCSC Ensembl
Innerchr16:32021171..32538757hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38517587
hg19517587
hg18517587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2836n100
Supporting Variantsnssv3550254, nssv3716254, nssv3550253, nssv3716253
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)nsv1064648
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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