A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222377



Internal ID22366475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:129980081..130011769hg38UCSC Ensembl
Outerchr4:130901236..130932924hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274532, nssv14274531, nssv14274533, nssv14274534, nssv14274530
SamplesNA19238, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222377
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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