A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143045



Internal ID18908709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20142808..20142880hg38UCSC Ensembl
Outerchr3:20184300..20184372hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979811
SamplesKWS2
Known GenesKAT2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143045
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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