A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3025n106



Internal ID20162382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1928386..1930386hg38UCSC Ensembl
chr5:1928500..1930500hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1139829, nsv1132603
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3025n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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