A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237343



Internal ID22373852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49802343..49812551hg38UCSC Ensembl
Outerchr18:47328713..47338921hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262357, nssv14262356, nssv14262355, nssv14262358
SamplesHG00731, HG00732, NA19240, HG00733
Known GenesACAA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237343
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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