A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224631



Internal ID22368001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20827744..20827980hg38UCSC Ensembl
chr20:20808387..20808623hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5198n152
Supporting Variantsnssv14433232
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224631
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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