A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621287



Internal ID21569592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133925022..133925022hg38UCSC Ensembl
chr2:134682593..134682593hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108687
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621287
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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