A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624930



Internal ID21573235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1799348..1799348hg38UCSC Ensembl
chr8:1747514..1747514hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154643
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624930
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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