A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129711



Internal ID18904210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1650402..1650460hg38UCSC Ensembl
Outerchr4:1652129..1652187hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964019
SamplesKWS1
Known GenesFAM53A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129711
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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