A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202417



Internal ID22351586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:30427091..30497542hg38UCSC Ensembl
Outerchr5:30427198..30497649hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3870452
hg1970452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274862, nssv14274861
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202417
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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