A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906374



Internal ID22681574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158128799..158129679hg38UCSC Ensembl
chr2:158985311..158986191hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400948
Samples
Known GenesUPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906374
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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