A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445274



Internal ID223629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196814543..196935693hg38UCSC Ensembl
chr1:196783673..196904823hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38121151
hg19121151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894456
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445274
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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