A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539149



Internal ID314133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31464496..31466094hg38UCSC Ensembl
chr22:31860482..31862080hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381599
hg191599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728491
Samples
Known GenesEIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539149
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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