A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2808496



Internal ID21253834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179936552..179937016hg38UCSC Ensembl
chr3:179654340..179654804hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685291
Samples
Known GenesPEX5L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2808496
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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