A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143073



Internal ID18916031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:679157..679270hg38UCSC Ensembl
Outerchr4:672946..673059hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979840, nssv3962555
SamplesKWS1, KWS2
Known GenesMYL5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143073
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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