A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226682



Internal ID22369399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38752713..38761018hg38UCSC Ensembl
Outerchr4:38754334..38762639hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273878, nssv14273876, nssv14273877
SamplesHG00512, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226682
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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