A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214689



Internal ID22361269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47150431..47164918hg38UCSC Ensembl
Outerchr20:45779070..45793555hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3814488
hg1914486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266324
SamplesHG00512
Known GenesEYA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214689
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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