A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926450



Internal ID18356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237803795..237843033hg38UCSC Ensembl
chr2:238712438..238751676hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3839239
hg1939239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443950
Supporting Variants
Samples
Known GenesRBM44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926450
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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