A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139834



Internal ID18919100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33569695..33574895hg38UCSC Ensembl
Outerchr5:33569800..33575000hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978170
SamplesKWS2
Known GenesADAMTS12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139834
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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