A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914384



Internal ID22689601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118537152..118551182hg38UCSC Ensembl
chr11:118407867..118421897hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3814031
hg1914031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369272
Samples
Known GenesIFT46, TMEM25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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