A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269827



Internal ID22220653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:135802788..135892493hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3889706
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205422
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269827
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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