A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563461



Internal ID22432197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39072200..39072200hg38UCSC Ensembl
chr4:39073820..39073820hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314930, nssv14314929
SamplesNA19238, NA19240
Known GenesKLHL5
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)nsv3563461
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