A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212082



Internal ID22359437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:26181042..26210877hg38UCSC Ensembl
Outerchr4:26182664..26212499hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381621
hg191621
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273485, nssv14273488, nssv14273486, nssv14273222, nssv14273489, nssv14273223, nssv14273487
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212082
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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