A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423395



Internal ID202417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158739827..158755864hg38UCSC Ensembl
chr1:158709617..158725654hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3816038
hg1916038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890473
Samples
Known GenesOR6K6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423395
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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