A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262143



Internal ID22303012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50080455..50087721hg38UCSC Ensembl
Outerchr17:48157819..48165085hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381642
hg191642
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243983
Supporting Variants
SamplesNA19240
Known GenesITGA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262143
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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