A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253402



Internal ID22144318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:67464531..67484473hg38UCSC Ensembl
Outerchr10:69224289..69244231hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381696
hg191696
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234394
Supporting Variants
SamplesHG00514
Known GenesCTNNA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253402
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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