A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523503



Internal ID22392931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736202..88736525hg38UCSC Ensembl
chr5:88032019..88032342hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7431n152
Supporting Variantsnssv14321364, nssv14321366, nssv14321358, nssv14321365, nssv14321363, nssv14321359, nssv14321360, nssv14321362, nssv14321361
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMEF2C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523503
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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