A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435776



Internal ID214408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149308827..149310959hg38UCSC Ensembl
chr2:150165341..150167473hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg382133
hg192133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920490
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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