A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434052



Internal ID21396054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38083510..38085509hg38UCSC Ensembl
chr3:38125001..38127000hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15752720, nssv15748769, nssv15751847, nssv15746954
SamplesSMI034, NB08, BTQ016, NB09
Known GenesDLEC1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434052
Frequency
Sample Size15
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer