A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1600n106



Internal ID22795428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49773430..49777330hg38UCSC Ensembl
chr18:47299800..47303700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115537, nsv1128772
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1600n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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