A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729878



Internal ID153544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49832134..49835398hg38UCSC Ensembl
chr22:50225782..50229046hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383265
hg193265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553690
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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