A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627050



Internal ID21575355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57259868..57259868hg38UCSC Ensembl
chr8:58172427..58172427hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17153183
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627050
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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