A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226321



Internal ID22369161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175843820..175861642hg38UCSC Ensembl
Outerchr2:176708548..176726370hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382984
hg192984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265999, nssv14265997, nssv14265996, nssv14265998, nssv14266000, nssv14266001
SamplesHG00512, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226321
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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