A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229592



Internal ID22371395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:223005913..223020973hg38UCSC Ensembl
Outerchr2:223870631..223885691hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266017
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229592
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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