A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613296



Internal ID21561601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167148417..167148417hg38UCSC Ensembl
chr2:168004927..168004927hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110425
SamplesNA19238
Known GenesXIRP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613296
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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