A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631347



Internal ID21579652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117920279..117920279hg38UCSC Ensembl
chr8:118932518..118932518hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17152274
SamplesNA12329
Known GenesEXT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631347
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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