A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328369



Internal ID22266846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50484753..50485081hg38UCSC Ensembl
chr6:50452466..50452794hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523103
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)nssv14328369
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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