A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950113



Internal ID22725535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94491159..94491159hg38UCSC Ensembl
chr8:95503387..95503387hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449505
Samples
Known GenesKIAA1429
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950113
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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