A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612211



Internal ID21560516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10059230..10059230hg38UCSC Ensembl
chr1:10119288..10119288hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060063
SamplesNA19238
Known GenesUBE4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612211
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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