A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061796



Internal ID18804327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27516491..27732185hg38UCSC Ensembl
Innerchr16:27527812..27743506hg19UCSC Ensembl
Innerchr16:27435313..27651007hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38215695
hg19215695
hg18215695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2829n100
Supporting Variantsnssv3719372
Samples
Known GenesGTF3C1, KIAA0556
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061796
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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