A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2829n100



Internal ID22788916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27516491..27749880hg38UCSC Ensembl
chr16:27527812..27761201hg19UCSC Ensembl
chr16:27435313..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 StatusM
Merged Variants
Supporting Variantsnsv1061796, nsv1062270, nsv1063090
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)dgv2829n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer