A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002415



Internal ID19191417
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 StatusS
Merged Variantsnsv1153760
Supporting Variants
SamplesKWB1
Known GenesGLIS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002415
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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