A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313447



Internal ID22190022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69094123..69094447hg38UCSC Ensembl
chr4:69959841..69960165hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521553
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313447
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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