A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228503



Internal ID22370668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149836081..149839851hg38UCSC Ensembl
Outerchr1:149807643..149811423hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275970
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228503
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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