A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418429



Internal ID22476299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170460656..170461032hg38UCSC Ensembl
chr3:170178444..170178820hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901891
Supporting Variants
Samples
Known GenesSLC7A14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418429
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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