A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561509



Internal ID334488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131746923..131837816hg38UCSC Ensembl
chr12:132231468..132322361hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3890894
hg1990894
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685584
Samples
Known GenesMMP17, SFSWAP
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561509
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