A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17425475



Internal ID22483345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48838975..48982910hg38UCSC Ensembl
chr4:48840992..48984927hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38143936
hg19143936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900100
Supporting Variants
Samples
Known GenesOCIAD1, OCIAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17425475
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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