A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890618



Internal ID167924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9668394..9700016hg38UCSC Ensembl
chr1:9728452..9760074hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3831623
hg1931623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421531
Supporting Variants
Samples
Known GenesPIK3CD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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