A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556389



Internal ID329528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131556124..132287086hg38UCSC Ensembl
chr12:132040669..132863672hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38730963
hg19823004
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685553
Samples
Known GenesDDX51, EP400, EP400NL, GALNT9, LOC100130238, MMP17, NOC4L, PUS1, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556389
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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