A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207276



Internal ID20774317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142694301..142714000hg38UCSC Ensembl
chr2:143451870..143471569hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3819700
hg1919700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337050
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207276
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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