A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408515



Internal ID187840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197352496..197352547hg38UCSC Ensembl
chr1:197321626..197321677hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895429
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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