A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350193



Internal ID22575862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94529374..94529374hg38UCSC Ensembl
chr12:94923150..94923150hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971798
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350193
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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