A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv816n106



Internal ID20160173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49878392..49880191hg38UCSC Ensembl
chr12:50272175..50273974hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125547, nsv1111069
SamplesKWS1, KWS2
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv816n106
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