A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117182



Internal ID19248314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72685321..72685448hg38UCSC Ensembl
Outerchr17:70681460..70681587hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962388, nssv3979366
SamplesKWS2, KWS1
Known GenesSLC39A11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117182
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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