A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657602



Internal ID21605907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22995019..22995019hg38UCSC Ensembl
chr18:20574982..20574982hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100644
SamplesHG02818
Known GenesRBBP8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657602
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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