A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523073



Internal ID22392498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126417903..126418217hg38UCSC Ensembl
chr10:128106472..128106786hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1095n152
Supporting Variantsnssv14355947, nssv14355951, nssv14355948, nssv14355944, nssv14355950, nssv14355949, nssv14355946, nssv14355943, nssv14355945
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00601
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)nsv3523073
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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