A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402147



Internal ID22304057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101752961..101752961hg38UCSC Ensembl
chr8:102765189..102765189hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521292
Supporting Variants
SamplesNA19240
Known GenesNCALD
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)nssv14402147
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