A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219669



Internal ID22364619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228524406..228651671hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3846139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265166, nssv14265167, nssv14271189, nssv14271188, nssv14265169
SamplesNA19239, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219669
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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