A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436832



Internal ID215439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196996587..197034587hg38UCSC Ensembl
chr1:196965717..197003717hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894480
Samples
Known GenesCFHR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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