A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445003



Internal ID223364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196755587..196846587hg38UCSC Ensembl
chr1:196724717..196815717hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891001
hg1991001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895112
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445003
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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