A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559952



Internal ID22428747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36994617..36994617hg38UCSC Ensembl
chr13:37568754..37568754hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14368782
SamplesNA19238
Known GenesALG5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559952
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