A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1871n106



Internal ID20161228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16225124..16226720hg38UCSC Ensembl
chr2:16406392..16407988hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381597
hg191597
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1117232, nsv1133268
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1871n106
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