A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355483



Internal ID22581152
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 StatusS
Merged Variantsnsv5915094
Supporting Variants
Samples
Known GenesLDHAL6A, LDHC, TSG101, UEVLD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355483
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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