A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237428



Internal ID22373871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:68843994..68878757hg38UCSC Ensembl
Outerchr14:69310711..69345474hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382176
hg192176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258212, nssv14258207, nssv14258209, nssv14258213, nssv14258210, nssv14258208, nssv14258206, nssv14258211, nssv14258205
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesACTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237428
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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