A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342565



Internal ID22128284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54059289..54059600hg38UCSC Ensembl
chr8:54971849..54972160hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522465
Supporting Variants
SamplesHG00512
Known GenesLYPLA1
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)nssv14342565
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer