A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441218



Internal ID22499088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123070188..123074040hg38UCSC Ensembl
chr8:124082428..124086280hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926602
Supporting Variants
Samples
Known GenesTBC1D31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441218
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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