A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400298



Internal ID22458168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12182097..12182230hg38UCSC Ensembl
chr19:12292912..12293045hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936169
Supporting Variants
Samples
Known GenesZNF136
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400298
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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