A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212532



Internal ID22359750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131702109..131762951hg38UCSC Ensembl
Outerchr4:132623264..132684106hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3810638
hg1910638
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273999, nssv14273970, nssv14274000
SamplesHG00512, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212532
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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