A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430886



Internal ID209680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93192116..93192206hg38UCSC Ensembl
chr1:93657673..93657763hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906686
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430886
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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