A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229761



Internal ID22371501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70418679..70439298hg38UCSC Ensembl
Outerchr2:70645811..70666430hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265944, nssv14267350, nssv14267352, nssv14267351, nssv14267353
SamplesHG00512, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229761
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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