A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112154



Internal ID21451004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240805129..240805129hg38UCSC Ensembl
chr2:241744546..241744546hg19UCSC 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 Variantsnsv5611342
Supporting Variants
SamplesHG01505
Known GenesKIF1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112154
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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