A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557340



Internal ID330439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39077785..39077819hg38UCSC Ensembl
chr14:39546989..39547023hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696510
Samples
Known GenesSEC23A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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