A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426382



Internal ID205317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110288863..110288930hg38UCSC Ensembl
chr1:110831485..110831552hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908032
Samples
Known GenesLOC440600
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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