A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560521



Internal ID22429318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39064034..39064034hg38UCSC Ensembl
chr14:39533238..39533238hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371264, nssv14371265
SamplesHG00731, HG00733
Known GenesSEC23A
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)nsv3560521
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