A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223658



Internal ID22367356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150589670..150605026hg38UCSC Ensembl
Outerchr2:151446184..151461540hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267389, nssv14267390
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223658
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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