A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605986



Internal ID21554291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68941763..68941763hg38UCSC Ensembl
chr2:69168895..69168895hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386039
hg196039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113590
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605986
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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