A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972090



Internal ID48760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103459683..103502848hg38UCSC Ensembl
chr5:102795384..102838549hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3843166
hg1943166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460205
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972090
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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