A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227830



Internal ID22370200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51623755..51632600hg38UCSC Ensembl
Outerchr3:51657771..51666616hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3812828
hg1912828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272498
SamplesHG00512
Known GenesRAD54L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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