A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261507



Internal ID22133558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80486496..80507376hg38UCSC Ensembl
Outerchr17:78460296..78481176hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3820881
hg1920881
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226161
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261507
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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