A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv877n106



Internal ID22794705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116374895..116376195hg38UCSC Ensembl
chr12:116812700..116814000hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110215, nsv1115438
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv877n106
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