A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420186



Internal ID199297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158890587..158956587hg38UCSC Ensembl
chr1:158860377..158926377hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891417
Samples
Known GenesPYHIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420186
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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