A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153760



Internal ID19199935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53555526..53557027hg38UCSC Ensembl
Outerchr1:54021199..54022700hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002415
SamplesKWB1
Known GenesGLIS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153760
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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