A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521908



Internal ID22391324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142677044..142677369hg38UCSC Ensembl
chr2:143434613..143434938hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4845n152
Supporting Variantsnssv14294310, nssv14294313, nssv14294312, nssv14294311
SamplesNA19238, NA19239, NA19240, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYE5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521908
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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