A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608242



Internal ID21556547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2568439..2568439hg38UCSC Ensembl
chr1:2499878..2499878hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17064647
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608242
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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