A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512739



Internal ID15505475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53525442..53525526hg38UCSC Ensembl
Outerchr1:53991115..53991199hg19UCSC Ensembl
Outerchr1:53763703..53763787hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625366
Samples1
Known GenesGLIS1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512739
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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