A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314150



Internal ID22253325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34529994..34530328hg38UCSC Ensembl
chr4:34531616..34531950hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523033
Supporting Variants
SamplesNA19238
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)nssv14314150
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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