A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889332



Internal ID22664349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:174870828..174870916hg38UCSC Ensembl
chr3:174588618..174588706hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411767
Samples
Known GenesNAALADL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889332
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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