A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142226



Internal ID18903355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56867670..56870222hg38UCSC Ensembl
Outerchr17:54945031..54947583hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993733
SamplesKWS2
Known GenesDGKE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142226
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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