A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235521



Internal ID22373314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70235329..70258415hg38UCSC Ensembl
Outerchr9:72850245..72873331hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg384758
hg194758
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283053, nssv14283054, nssv14283055
SamplesNA19238, NA19240, HG00513
Known GenesSMC5-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235521
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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