A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949591



Internal ID22725040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31464517..31466154hg38UCSC Ensembl
chr22:31860503..31862140hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403422
Samples
Known GenesEIF4ENIF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949591
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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