A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213905



Internal ID22360707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178733529..178767850hg38UCSC Ensembl
Outerchr3:178451317..178485638hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38894
hg19894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271990, nssv14271993, nssv14271992, nssv14271991, nssv14271989
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known GenesKCNMB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213905
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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