A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143080



Internal ID18939526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:25129598..25129667hg38UCSC Ensembl
Outerchr4:25131220..25131289hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979848
SamplesKWS2
Known GenesSEPSECS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143080
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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