A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613648



Internal ID21561953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191667896..191667896hg38UCSC Ensembl
chr2:192532622..192532622hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110971
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613648
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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