A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283054



Internal ID22255060
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235521
Supporting Variants
SamplesNA19238
Known GenesSMC5-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283054
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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