A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561542



Internal ID334518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40284453..40319330hg38UCSC Ensembl
chr2:40511593..40546470hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3834878
hg1934878
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911553
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561542
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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