A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253449



Internal ID22130726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:126469149..126486615hg38UCSC Ensembl
Outerchr10:128157718..128175184hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg386077
hg196077
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246829
Supporting Variants
SamplesHG00513
Known GenesC10orf90
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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