A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612358



Internal ID21560663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100664321..100664321hg38UCSC Ensembl
chr2:101280783..101280783hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107431
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612358
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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