A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3549141



Internal ID18500736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27516491..27749880hg38UCSC Ensembl
Innerchr16:27527812..27761201hg19UCSC Ensembl
Innerchr16:27435313..27668702hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38233390
hg19233390
hg18233390
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062270
Supporting Variants
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)nssv3549141
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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