A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273671



Internal ID22193958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58212031..58266199hg38UCSC Ensembl
Outerchr5:57507858..57562026hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3854169
hg1954169
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202463
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273671
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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