A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1456n106



Internal ID22795284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32265781..32266181hg38UCSC Ensembl
chr17:30592800..30593200hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144797, nsv1133404
SamplesKWS2, KWS1
Known GenesRHBDL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1456n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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