A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253843



Internal ID22130866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28643451..28669513hg38UCSC Ensembl
Outerchr10:28932380..28958442hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38926
hg19926
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235325
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253843
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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