A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433145



Internal ID211871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88125867..88125918hg38UCSC Ensembl
chr12:88519644..88519695hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684005
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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