A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213988



Internal ID22360768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172689578..172693265hg38UCSC Ensembl
Outerchr3:172407368..172411055hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271878, nssv14271873, nssv14271874, nssv14271879, nssv14271877, nssv14271876, nssv14271875
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesNCEH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213988
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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