A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278240



Internal ID22254086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:101630191..101637163hg38UCSC Ensembl
Outerchr10:103389948..103396920hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg386973
hg196973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229165
Supporting Variants
SamplesNA19238
Known GenesFBXW4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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