A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3214n106



Internal ID20162571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172283596..172284296hg38UCSC Ensembl
chr5:171710600..171711300hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119047, nsv1133618
SamplesKWS1, KWS2
Known GenesUBTD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3214n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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