A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830217



Internal ID22605152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46090508..46110111hg38UCSC Ensembl
chr1:46556180..46575783hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3819604
hg1919604
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17465101
Samples
Known GenesPIK3R3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830217
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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