A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260933



Internal ID22133326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28425325..28460610hg38UCSC Ensembl
Outerchr17:26752343..26787628hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3835286
hg1935286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219228
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260933
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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