A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1500n106



Internal ID22795328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68231398..68231636hg38UCSC Ensembl
chr17:66227539..66227777hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143516, nsv1134669
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1500n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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