A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281931



Internal ID22135231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8796312..8817358hg38UCSC Ensembl
Outerchr10:8838275..8859321hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241050
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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