A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210570



Internal ID22358424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238587395..238641993hg38UCSC Ensembl
Outerchr2:239496036..239550634hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265219, nssv14265217, nssv14265220, nssv14265218
SamplesNA19238, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210570
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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