A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948460



Internal ID22723939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109311559..109311559hg38UCSC Ensembl
chr8:110323788..110323788hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439108
Samples
Known GenesNUDCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948460
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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