A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220548



Internal ID22365211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80042161..80044758hg38UCSC Ensembl
chr12:80435941..80438538hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382598
hg192598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362928
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220548
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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