A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620218



Internal ID21568523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199851119..199851119hg38UCSC Ensembl
chr2:200715842..200715842hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111357
SamplesNA19650
Known GenesFTCDNL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620218
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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