A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451364



Internal ID229547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203020076..203020131hg38UCSC Ensembl
chr1:202989204..202989259hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894855
Samples
Known GenesTMEM183A, TMEM183B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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