A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260818



Internal ID22301415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75883070..75886480hg38UCSC Ensembl
Outerchr17:73879151..73882561hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383411
hg193411
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228059
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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