A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954609



Internal ID37061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123330774..124334739hg38UCSC Ensembl
chr4:124251929..125255894hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381003966
hg191003966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455373
Supporting Variants
Samples
Known GenesLINC01091, SPRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954609
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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