A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521885



Internal ID22391301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156220599..156220820hg38UCSC Ensembl
chr2:157077111..157077332hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14295839
SamplesNA19239
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)nsv3521885
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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