A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117429



Internal ID18907201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179208108..179208186hg38UCSC Ensembl
Outerchr5:178635109..178635187hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980003
SamplesKWS2
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117429
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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