A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982090



Internal ID21891433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197374298..197430992hg38UCSC Ensembl
chr1:197343428..197400122hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856695
hg1956695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523588
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982090
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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