A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261157



Internal ID22322817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43229876..43378861hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3828930
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243341
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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