A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217300



Internal ID22363004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:136333567..136353387hg38UCSC Ensembl
Outerchr2:137091137..137110957hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381559
hg191559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265550, nssv14265058, nssv14265061, nssv14265549, nssv14265059, nssv14265060
SamplesNA19238, NA19239, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217300
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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