A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897149



Internal ID172248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219375843..219393254hg38UCSC Ensembl
chr1:219549185..219566596hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3817412
hg1917412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440272
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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