A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2522n106



Internal ID22796350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48210374..48213528hg38UCSC Ensembl
chr3:48251864..48255018hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383155
hg193155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130030, nsv1130460
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2522n106
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