A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973257



Internal ID49557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113600599..113614675hg38UCSC Ensembl
chr5:112936296..112950372hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3814077
hg1914077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457539
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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