A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14294834



Internal ID22136015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029717..169030037hg38UCSC Ensembl
chr2:169886227..169886547hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522988
Supporting Variants
SamplesHG00513
Known GenesABCB11
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)nssv14294834
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