A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273965



Internal ID22311112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65932181..65946861hg38UCSC Ensembl
Outerchr4:66797899..66812579hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217588
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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