A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878458



Internal ID22653423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40537671..40544881hg38UCSC Ensembl
chr2:40764811..40772021hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg387211
hg197211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402850
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878458
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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