A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253435



Internal ID22130712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:99532403..99533822hg38UCSC Ensembl
Outerchr10:101292160..101293579hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38752
hg19752
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239985
Supporting Variants
SamplesHG00513
Known GenesNKX2-3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253435
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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