A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554481



Internal ID327667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123600071..123600714hg38UCSC Ensembl
chr12:124084618..124085261hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690829
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554481
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