A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1290n106



Internal ID20160647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4272599..4273399hg38UCSC Ensembl
chr16:4322600..4323400hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1131105, nsv1126413
SamplesKWS1, KWS2
Known GenesTFAP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1290n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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