A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295839



Internal ID22272643
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521885
Supporting Variants
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)nssv14295839
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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