A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1365n106



Internal ID20160722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70121297..70203697hg38UCSC Ensembl
chr16:70155200..70237600hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3882401
hg1982401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128750, nsv1124742
SamplesKWS2, KWS1
Known GenesCLEC18C, PDPR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1365n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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