A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409037



Internal ID22466907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125198428..125201993hg38UCSC Ensembl
chr3:124917272..124920837hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg383566
hg193566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888006
Supporting Variants
Samples
Known GenesSLC12A8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409037
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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