A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523033



Internal ID22392458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34529994..34530328hg38UCSC Ensembl
chr4:34531616..34531950hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6547n152
Supporting Variantsnssv14314148, nssv14314151, nssv14314150, nssv14314152, nssv14314147, nssv14314149
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
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)nsv3523033
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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