A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428287



Internal ID207165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179961913..179970533hg38UCSC Ensembl
chr1:179931048..179939668hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg388621
hg198621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893267
Samples
Known GenesCEP350
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428287
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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