A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899449



Internal ID407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240757875..240774270hg38UCSC Ensembl
chr1:240921175..240937570hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3816396
hg1916396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444478
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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