A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922598



Internal ID15832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178807691..178835756hg38UCSC Ensembl
chr2:179672418..179700483hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3828066
hg1928066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448132
Supporting Variants
Samples
Known GenesCCDC141
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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