A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237234



Internal ID22373821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38864593..38939012hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281310, nssv14281312, nssv14281314, nssv14281315, nssv14281313, nssv14281311
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237234
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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