A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253423



Internal ID22130696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2383564..2393676hg38UCSC Ensembl
Outerchr10:2425758..2435870hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247924
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253423
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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