A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5635678



Internal ID21583983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60543359..60543359hg38UCSC Ensembl
chr8:61455918..61455918hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17140828
SamplesNA19238
Known GenesRAB2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5635678
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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