A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261216



Internal ID22133414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40501962..40547679hg38UCSC Ensembl
Outerchr17:38658214..38703931hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381499
hg191499
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232708
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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