A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149141



Internal ID19202492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:492537..501238hg38UCSC Ensembl
Outerchr1:318099..326800hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388702
hg198702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002651
SamplesKWB1
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149141
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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