A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982158



Internal ID21891501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196817013..196934428hg38UCSC Ensembl
chr1:196786143..196903558hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38117416
hg19117416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530448
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982158
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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