A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253210



Internal ID22199386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:125969943..125988006hg38UCSC Ensembl
Outerchr9:128732222..128750285hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238903
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253210
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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