A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282301



Internal ID22329614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:7940814..7960196hg38UCSC Ensembl
Outerchr9:7940814..7960196hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg383882
hg193882
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237681
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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