A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208722



Internal ID22356916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:72728429..72801325hg38UCSC Ensembl
Outerchr5:72024256..72097152hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3872897
hg1972897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274929
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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