A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283633



Internal ID22137369
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238221
Supporting Variants
SamplesHG00513
Known GenesMUSK
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283633
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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