A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230054



Internal ID22371702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:162710386..162726658hg38UCSC Ensembl
Outerchr1:162680176..162696448hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264278, nssv14264279, nssv14264280
SamplesNA19238, HG00513, HG00514
Known GenesDDR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230054
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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