A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214273



Internal ID22360971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:21810890..21861488hg38UCSC Ensembl
Outerchr2:22033762..22084360hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381685
hg191685
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264559, nssv14264555, nssv14264561, nssv14264562, nssv14264556, nssv14264557, nssv14264560, nssv14264558
SamplesHG00512, NA19238, NA19239, 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)nsv3214273
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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