A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244879



Internal ID22375985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100687944..100722903hg38UCSC Ensembl
Outerchr15:101228149..101263108hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg381843
hg191843
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259399, nssv14259400, nssv14259402, nssv14259398, nssv14259396, nssv14259397, nssv14259395, nssv14259401
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244879
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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