A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282330



Internal ID22199801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:24970316..25000443hg38UCSC Ensembl
Outerchr9:24970314..25000441hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242351
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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