A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423030



Internal ID22480900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119379308..119383750hg38UCSC Ensembl
chr5:118715003..118719445hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg384443
hg194443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894516
Supporting Variants
Samples
Known GenesTNFAIP8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423030
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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