A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112022



Internal ID21424213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238231711..238231711hg38UCSC Ensembl
chr2:239140352..239140352hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5614173
Supporting Variants
SamplesHG00731
Known GenesLOC643387
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112022
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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