A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5625179



Internal ID21573484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109311559..109311559hg38UCSC Ensembl
chr8:110323788..110323788hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150493
SamplesNA19239
Known GenesNUDCD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5625179
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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