A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927006



Internal ID18719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234622865..234622928hg38UCSC Ensembl
chr2:235531509..235531572hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139663
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03959


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