A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214525



Internal ID22361152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7290879..7423824hg38UCSC Ensembl
Outerchr20:7271526..7404471hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38132946
hg19132946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266857
SamplesHG00732
Known GenesMIR8062
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214525
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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