A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16954124



Internal ID36741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119027553..119037952hg38UCSC Ensembl
chr4:119948708..119959107hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460085
Supporting Variants
Samples
Known GenesSYNPO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16954124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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