A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277830



Internal ID22270320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124373516..124386561hg38UCSC Ensembl
Outerchr10:126062085..126075130hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3813046
hg1913046
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218228
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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