A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683884



Internal ID107550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2348614..2348700hg38UCSC Ensembl
chr1:2280053..2280139hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428787
Supporting Variants
Samples
Known GenesMORN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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