A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972067



Internal ID22747002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127094..88127094hg38UCSC Ensembl
chr12:88520871..88520871hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353940
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972067
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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