A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202463



Internal ID22351626
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273671
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202463
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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