A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222090



Internal ID22366276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138338766..138339901hg38UCSC Ensembl
Outerchr5:137674455..137675590hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3849974
hg1949974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275952
SamplesHG00514
Known GenesFAM53C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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