A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265169



Internal ID22282636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228524406..228651671hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3870775
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219669
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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