A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116727



Internal ID18915690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:51348686..51348848hg38UCSC Ensembl
Outerchr13:51922822..51922984hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979288
SamplesKWS2
Known GenesSERPINE3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116727
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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