A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608869



Internal ID21557174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172411404..172411404hg38UCSC Ensembl
chr2:173276132..173276132hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109804
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608869
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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