A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17489589



Internal ID22547508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125198422..125202544hg38UCSC Ensembl
chr3:124917266..124921388hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384123
hg194123
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5834879
Supporting Variants
Samples
Known GenesSLC12A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17489589
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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