A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108459



Internal ID21511968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127666454..127666454hg38UCSC Ensembl
chr2:128424028..128424028hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613873
Supporting Variants
SamplesNA24385
Known GenesLIMS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108459
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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