A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448816



Internal ID22506686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128984302..128984302hg38UCSC Ensembl
chr8:129996548..129996548hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958235
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448816
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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