A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417741



Internal ID196930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93261204..93261388hg38UCSC Ensembl
chr1:93726761..93726945hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908336
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417741
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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