A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434507



Internal ID21396509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132453309..132499308hg38UCSC Ensembl
chr5:131789001..131835000hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3846000
hg1946000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15752840
SamplesSMI041
Known GenesC5orf56, IRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434507
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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