A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260920



Internal ID22145455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27207151..27224681hg38UCSC Ensembl
Outerchr17:25534177..25551707hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3817531
hg1917531
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211105
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260920
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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