A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275086



Internal ID22138313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22014750..22053016hg38UCSC Ensembl
Outerchr4:22016373..22054639hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3838267
hg1938267
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194649
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275086
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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