A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260781



Internal ID22316668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57008829..57020970hg38UCSC Ensembl
Outerchr17:55086190..55098331hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812142
hg1912142
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226739
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260781
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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