A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539651



Internal ID314553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42385168..42506207hg38UCSC Ensembl
chr22:42781174..42902213hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38121040
hg19121040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729219
Samples
Known GenesNFAM1, SERHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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