A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554367



Internal ID327557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198850703..198850754hg38UCSC Ensembl
chr1:198819832..198819883hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893552
Samples
Known GenesMIR181A1HG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554367
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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