A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189384



Internal ID22340749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122938652..122938975hg38UCSC Ensembl
chr5:122274347..122274670hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7508n152
Supporting Variantsnssv14323919, nssv14323917, nssv14323914, nssv14323916, nssv14323920, nssv14323918, nssv14323915, nssv14323922, nssv14323921
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSNX24
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189384
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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