A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538208



Internal ID313361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45304128..45330037hg38UCSC Ensembl
chr22:45700009..45725918hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3825910
hg1925910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729481
Samples
Known GenesFAM118A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538208
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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