A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443585



Internal ID22501455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23225576..23227787hg38UCSC Ensembl
chr8:23083089..23085300hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382212
hg192212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5924879
Supporting Variants
Samples
Known GenesLOC389641
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443585
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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