A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621300



Internal ID21569605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197547091..197547091hg38UCSC Ensembl
chr2:198411815..198411815hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110985
SamplesHG03065
Known GenesHSPE1-MOB4, MOB4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621300
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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