A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612379



Internal ID21560684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232827198..232827198hg38UCSC Ensembl
chr2:233691908..233691908hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111736
SamplesHG00096
Known GenesGIGYF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612379
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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