A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622930



Internal ID21571235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206943667..206943667hg38UCSC Ensembl
chr2:207808391..207808391hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111037
SamplesHG00731
Known GenesCPO
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622930
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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