A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522926



Internal ID22392350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102885480..102885829hg38UCSC Ensembl
chr10:104645237..104645586hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1036n152
Supporting Variantsnssv14353641, nssv14353640, nssv14353644, nssv14353645, nssv14353642, nssv14353643
SamplesHG00512, NA19239, HG00732, HG00733, HG00513, HG00514
Known GenesAS3MT, C10orf32-ASMT
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)nsv3522926
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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