A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557440



Internal ID330537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20431938..20591664hg38UCSC Ensembl
chr16:20443260..20602986hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38159727
hg19159727
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706177
Samples
Known GenesACSM2A, ACSM2B, ACSM5
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557440
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