A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225415



Internal ID22368551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50750044..50775347hg38UCSC Ensembl
Outerchr20:49366581..49391884hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3825304
hg1925304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267189, nssv14267188
SamplesNA19238, NA19240
Known GenesPARD6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225415
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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