A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273583



Internal ID22134319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:23289711..23322858hg38UCSC Ensembl
Outerchr5:23289820..23322967hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3833148
hg1933148
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203634
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273583
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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