A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522534



Internal ID22391956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45400756..45401069hg38UCSC Ensembl
chr19:45904014..45904327hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4289n152
Supporting Variantsnssv14291518, nssv14291517, nssv14291520, nssv14291519, nssv14291522, nssv14291521, nssv14291523, nssv14291516
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPP1R13L
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)nsv3522534
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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