A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17440384



Internal ID22498254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144874251..144885016hg38UCSC Ensembl
chr8:146099636..146110401hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810766
hg1910766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5925865
Supporting Variants
Samples
Known GenesZNF250
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17440384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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