A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309346



Internal ID22223781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122419595..122419921hg38UCSC Ensembl
chr3:122138442..122138768hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524395
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14309346
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