A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3084n106



Internal ID22796912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50109866..50146766hg38UCSC Ensembl
chr5:49405700..49442600hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3836901
hg1936901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115689, nsv1110440
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3084n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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