A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275265



Internal ID22136979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154265265..154275947hg38UCSC Ensembl
Outerchr5:153644825..153655507hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227086
Supporting Variants
SamplesHG00513
Known GenesGALNT10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275265
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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