A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614263



Internal ID21562568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219330649..219330649hg38UCSC Ensembl
chr2:220195371..220195371hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111460
SamplesNA19238
Known GenesRESP18
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614263
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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