A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148681



Internal ID18852050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49683166..49692167hg38UCSC Ensembl
Outerchr3:49720599..49729600hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg389002
hg199002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997468
SamplesKWB1
Known GenesAPEH, MST1, RNF123
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148681
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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