A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976171



Internal ID22751106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30334208..30334208hg38UCSC Ensembl
chr11:30355755..30355755hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368411
Samples
Known GenesARL14EP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976171
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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