A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273643



Internal ID22152889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1955109..1976127hg38UCSC Ensembl
Outerchr5:1955223..1976241hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3821019
hg1921019
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200822
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273643
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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