A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145817



Internal ID18854284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:77291048..77294049hg38UCSC Ensembl
Outerchr3:77340199..77343200hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997179
SamplesKWB1
Known GenesROBO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145817
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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