A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235897



Internal ID22373430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128850620..128872224hg38UCSC Ensembl
Outerchr9:131612899..131634503hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253094, nssv14253095
SamplesHG00512, HG00513
Known GenesCCBL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235897
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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