A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238221



Internal ID22374099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110675623..110694152hg38UCSC Ensembl
Outerchr9:113437903..113456432hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283634, nssv14283635, nssv14283633, nssv14283638, nssv14283636, nssv14283637
SamplesNA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesMUSK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238221
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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