A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524395



Internal ID22393828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122419595..122419921hg38UCSC Ensembl
chr3:122138442..122138768hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6129n152
Supporting Variantsnssv14309344, nssv14309346, nssv14309348, nssv14309347, nssv14309345, nssv14309342, nssv14309341, nssv14309343
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3524395
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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