A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604563



Internal ID21553233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217752694..217752694hg38UCSC Ensembl
chr2:218617417..218617417hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110099
SamplesHG03065
Known GenesDIRC3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604563
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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