A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223035



Internal ID22366923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34524144..34542308hg38UCSC Ensembl
Outerchr1:34989745..35007909hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268768, nssv14268771, nssv14268770, nssv14268767, nssv14268769, nssv14268765, nssv14268766, nssv14268772
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223035
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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