A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253434



Internal ID22130710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71768505..71774039hg38UCSC Ensembl
Outerchr10:73528262..73533796hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234707
Supporting Variants
SamplesHG00513
Known GenesC10orf54, CDH23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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