A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620265



Internal ID21568570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107827591..107827591hg38UCSC Ensembl
chr2:108444047..108444047hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107176
SamplesHG03486
Known GenesRGPD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620265
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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