A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275949



Internal ID22153729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63190526..63219263hg38UCSC Ensembl
Outerchr5:62486353..62515090hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228852
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275949
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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