A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227816



Internal ID22370191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65577072..65619831hg38UCSC Ensembl
Outerchr2:65804206..65846965hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266165, nssv14266161, nssv14266162, nssv14266160, nssv14266163, nssv14266158, nssv14266159, nssv14266164
SamplesNA19238, 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)nsv3227816
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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