A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877911



Internal ID22652877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196803229..196930316hg38UCSC Ensembl
chr1:196772359..196899446hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38127088
hg19127088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114n209
Supporting Variantsnssv17368790
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877911
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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