A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388216



Internal ID22446086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54386683..54386683hg38UCSC Ensembl
chr1:54852356..54852356hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966907
Supporting Variants
Samples
Known GenesSSBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388216
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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