A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882142



Internal ID22657119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220115346..220117985hg38UCSC Ensembl
chr1:220288688..220291327hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382640
hg192640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358250
Samples
Known GenesIARS2, MIR215, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882142
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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