A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390235



Internal ID22448105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223968866..223968976hg38UCSC Ensembl
chr2:224833583..224833693hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899103
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390235
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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