A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17471550



Internal ID22529441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47183207..47186764hg38UCSC Ensembl
chr16:47217118..47220675hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383558
hg193558
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878055
Supporting Variants
Samples
Known GenesITFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17471550
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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