A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262185



Internal ID22145630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:65431768..65439317hg38UCSC Ensembl
Outerchr17:63427886..63435435hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231713
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262185
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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