A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219785



Internal ID22364695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:144014576..144054741hg38UCSC Ensembl
Outerchr5:143394141..143434306hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276895, nssv14276894
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219785
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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