A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959938



Internal ID22734957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24522478..24522478hg38UCSC Ensembl
chr6:24522706..24522706hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445507
Samples
Known GenesALDH5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959938
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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