A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253470



Internal ID22144330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:9362348..9365069hg38UCSC Ensembl
Outerchr10:9404311..9407032hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38162481
hg19162481
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232978
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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