A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436813



Internal ID215420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197263574..197266742hg38UCSC Ensembl
chr1:197232704..197235872hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895425
Samples
Known GenesCRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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