A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535101



Internal ID310809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42484074..42539930hg38UCSC Ensembl
chr22:42880080..42935936hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3855857
hg1955857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729233
Samples
Known GenesRRP7A, SERHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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