A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292268



Internal ID22311239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33556224..33556545hg38UCSC Ensembl
chr2:33781291..33781612hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523720
Supporting Variants
SamplesNA19240
Known GenesRASGRP3
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)nssv14292268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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