A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204722



Internal ID22353528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2813968..2821826hg38UCSC Ensembl
Outerchr5:2814082..2821940hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387859
hg197859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273277
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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