A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237822



Internal ID22373979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134490133..134525657hg38UCSC Ensembl
Outerchr9:137381979..137417503hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289716, nssv14289715, nssv14289714, nssv14289713, nssv14289717
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237822
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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