A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915094



Internal ID22690312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18424161..18537002hg38UCSC Ensembl
chr11:18445708..18558549hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38112842
hg19112842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355483
Samples
Known GenesLDHAL6A, LDHC, TSG101, UEVLD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915094
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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