A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252903



Internal ID22210495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103197238..103208570hg38UCSC Ensembl
Outerchr10:104956995..104968327hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg388801
hg198801
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244277
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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