A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1117387



Internal ID19270353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:64333738..64351028hg38UCSC Ensembl
Outerchr4:65199456..65216746hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3817291
hg1917291
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979958
SamplesKWS2
Known GenesTECRL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1117387
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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