A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221403



Internal ID22365804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218834798..218847949hg38UCSC Ensembl
Outerchr2:219699521..219712672hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265175, nssv14265173, nssv14265172, nssv14265177, nssv14265176, nssv14265178, nssv14265179, nssv14265171, nssv14265174
SamplesHG00512, NA19238, 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)nsv3221403
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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