A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957061



Internal ID22711755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18067100..18067100hg38UCSC Ensembl
chr8:17924609..17924609hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449292
Samples
Known GenesASAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957061
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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