A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519805



Internal ID22389212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37589398..37589680hg38UCSC Ensembl
chr21:38961700..38961982hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5516n152
Supporting Variantsnssv14301982, nssv14301983, nssv14301985, nssv14301984, nssv14301981
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3519805
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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