A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233524



Internal ID22372781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43229876..43356253hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38136894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3570n152
Supporting Variantsnssv14262258
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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