A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv268n106



Internal ID22794096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112112..220112439hg38UCSC Ensembl
chr1:220285454..220285781hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144985, nsv1129652
SamplesKWS1
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv268n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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