A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276841



Internal ID22302135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:125427857..125458839hg38UCSC Ensembl
Outerchr5:124763550..124794532hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg388054
hg198054
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213634
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276841
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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