A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402425



Internal ID22294016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132713203..132713203hg38UCSC Ensembl
chr8:133725449..133725449hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519946
Supporting Variants
SamplesNA19240
Known GenesTMEM71
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402425
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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