A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205522



Internal ID22354202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129122167..129173440hg38UCSC Ensembl
Outerchr4:130043322..130094595hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3851274
hg1951274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273029, nssv14273030
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205522
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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