A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908974



Internal ID6771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5330577..5372146hg38UCSC Ensembl
chr2:5470710..5512279hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3841570
hg1941570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452990
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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