A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205057



Internal ID22353813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131542298..131589614hg38UCSC Ensembl
Outerchr4:132463453..132510769hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3847317
hg1947317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6838n152
Supporting Variantsnssv14274419, nssv14274418
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205057
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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