A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926455



Internal ID18360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237836898..237867029hg38UCSC Ensembl
chr2:238745541..238775672hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830132
hg1930132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434787
Supporting Variants
Samples
Known GenesRAMP1, RBM44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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