A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428096



Internal ID206977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9685640..9693497hg38UCSC Ensembl
chr1:9745698..9753555hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387858
hg197858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891222
Samples
Known GenesPIK3CD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428096
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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