A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901208



Internal ID22676356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125198544..125202998hg38UCSC Ensembl
chr3:124917388..124921842hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384455
hg194455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1509n209
Supporting Variantsnssv17405540
Samples
Known GenesSLC12A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901208
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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