A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253175



Internal ID22185374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:94702312..94717852hg38UCSC Ensembl
Outerchr9:97464594..97480134hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246922
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253175
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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