A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143130



Internal ID18928529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:25060051..25060144hg38UCSC Ensembl
Outerchr5:25060160..25060253hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979890
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143130
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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