A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954760



Internal ID37163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:125561285..125567381hg38UCSC Ensembl
chr4:126482440..126488536hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg386097
hg196097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140526
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007346


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