A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927566



Internal ID19092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187383786..187390899hg38UCSC Ensembl
chr2:188248513..188255626hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg387114
hg197114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435170
Supporting Variants
Samples
Known GenesCALCRL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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