A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905466



Internal ID22680653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175302055..175312280hg38UCSC Ensembl
chr3:175019844..175030069hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3810226
hg1910226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424939
Samples
Known GenesNAALADL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905466
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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