A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213631



Internal ID22360519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65911090..65960016hg38UCSC Ensembl
Outerchr4:66776808..66825734hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381682
hg191682
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274077, nssv14274076, nssv14274078
SamplesNA19238, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213631
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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