A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282280



Internal ID22124479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:6283380..6290528hg38UCSC Ensembl
Outerchr9:6283380..6290528hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236100
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282280
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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