A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414708



Internal ID22472578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177043001..177043053hg38UCSC Ensembl
chr3:176760789..176760841hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893274
Supporting Variants
Samples
Known GenesTBL1XR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414708
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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