A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175391



Internal ID22333338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41744479..41744794hg38UCSC Ensembl
chr22:42140483..42140798hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5736n152
Supporting Variantsnssv14303659, nssv14303660, nssv14303657, nssv14303662, nssv14303664, nssv14303665, nssv14303661, nssv14303663, nssv14303658
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMEI1
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)nsv3175391
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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