A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434506



Internal ID21396508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131252308..131283307hg38UCSC Ensembl
chr5:130588001..130619000hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3831000
hg1931000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15752058
SamplesSMI041
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434506
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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