A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055539



Internal ID18798070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32069540..34026275hg38UCSC Ensembl
Innerchr16:32080861..33828742hg19UCSC Ensembl
Innerchr16:31988362..33736243hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381956736
hg191747882
hg181747882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2840n100
Supporting Variantsnssv3549375, nssv3716249
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)nsv1055539
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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