A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875302



Internal ID22650260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196803322..196928069hg38UCSC Ensembl
chr1:196772452..196897199hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124748
hg19124748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114n209
Supporting Variantsnssv17361435
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875302
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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