A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063249



Internal ID19152468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32369618..33813659hg38UCSC Ensembl
Innerchr16:32380939..33616126hg19UCSC Ensembl
Innerchr16:32288440..33523627hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381444042
hg191235188
hg181235188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2871n100
Supporting Variantsnssv3551096, nssv3716377, nssv3551097
Samples
Known GenesLOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063249
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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