A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281043



Internal ID22215895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8091921..8117319hg38UCSC Ensembl
Outerchr10:8133884..8159282hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3825399
hg1925399
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222317
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281043
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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