A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888973



Internal ID22663983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43100112..43100196hg38UCSC Ensembl
chr3:43141604..43141688hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422859
Samples
Known GenesPOMGNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888973
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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