A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524297



Internal ID22393729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148488689..148489006hg38UCSC Ensembl
chr3:148206476..148206793hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6191n152
Supporting Variantsnssv14308206, nssv14308205
SamplesNA19239, NA19240
Known Genes
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)nsv3524297
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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