A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273242



Internal ID22253439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177765472..177825187hg38UCSC Ensembl
Outerchr5:177192473..177252188hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859716
hg1959716
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201887
Supporting Variants
SamplesNA19238
Known GenesFAM153A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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