A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267292



Internal ID22121498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2580495..2775347hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3867296
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214534
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267292
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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