A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193261



Internal ID22343729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152718779..152749685hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3830907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270093, nssv14270092
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193261
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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