A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275253



Internal ID22198430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135766674..135813764hg38UCSC Ensembl
Outerchr5:135102363..135149453hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211653
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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