A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978384



Internal ID22753319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24502146..24502146hg38UCSC Ensembl
chr11:24523692..24523692hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353062
Samples
Known GenesLUZP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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