A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14353642



Internal ID22171563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102885480..102885829hg38UCSC Ensembl
chr10:104645237..104645586hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522926
Supporting Variants
SamplesHG00514
Known GenesAS3MT, C10orf32-ASMT
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)nssv14353642
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