A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1300n106



Internal ID20160657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13200608..13202743hg38UCSC Ensembl
chr16:13294465..13296600hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382136
hg192136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111936, nsv1111789
SamplesKWS2
Known GenesSHISA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1300n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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