A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16949993



Internal ID34008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47864298..47864363hg38UCSC Ensembl
chr4:47866315..47866380hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469898
Supporting Variants
Samples
Known GenesNFXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16949993
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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