A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432152



Internal ID210905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84083722..84096140hg38UCSC Ensembl
chr1:84549405..84561823hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812419
hg1912419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905819
Samples
Known GenesPRKACB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432152
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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