A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14326929



Internal ID22130387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27875874..27876172hg38UCSC Ensembl
chr6:27843652..27843950hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3176358
Supporting Variants
SamplesHG00513
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)nssv14326929
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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