A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220411



Internal ID22365111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:57254055..57276261hg38UCSC Ensembl
Outerchr4:58120221..58142427hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274070, nssv14274065, nssv14274066, nssv14274068, nssv14274067, nssv14274064, nssv14274069, nssv14274071, nssv14274072
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220411
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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