A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220904



Internal ID22365462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:519604..569896hg38UCSC Ensembl
Outerchr4:513393..563685hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385877
hg195877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272877, nssv14272880, nssv14272878, nssv14272879, nssv14272884, nssv14272881, nssv14272883, nssv14272882
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPIGG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220904
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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