A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv250n106



Internal ID22794078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198804620..198806286hg38UCSC Ensembl
chr1:198773749..198775415hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381667
hg191667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130194, nsv1111427, nsv1130275
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv250n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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