A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192823



Internal ID22343355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37989923..38019355hg38UCSC Ensembl
Outerchr2:38217066..38246498hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3829433
hg1929433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265533
SamplesHG00513
Known GenesRMDN2, RMDN2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192823
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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