A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891462



Internal ID22666501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52444464..52444706hg38UCSC Ensembl
chr3:52478480..52478722hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411763
Samples
Known GenesSEMA3G
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891462
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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