A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125640



Internal ID18918408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67104152..67106299hg38UCSC Ensembl
Outerchr17:65100268..65102415hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382148
hg192148
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983848
SamplesKWS2
Known GenesHELZ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125640
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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