A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377343



Internal ID22435213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24905246..24906539hg38UCSC Ensembl
chr16:24916567..24917860hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944868
Supporting Variants
Samples
Known GenesSLC5A11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377343
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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