A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879943



Internal ID22654914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196761730..196846295hg38UCSC Ensembl
chr1:196730860..196815425hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3884566
hg1984566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354793
Samples
Known GenesCFHR1, CFHR3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879943
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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