A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563531



Internal ID22432267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138572247..138572247hg38UCSC Ensembl
chr5:137907936..137907936hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325737, nssv14325738
SamplesNA19239, NA19240
Known GenesHSPA9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563531
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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