A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112509



Internal ID21451416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241338740..241338740hg38UCSC Ensembl
chr2:242278155..242278155hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610307
Supporting Variants
SamplesHG01505
Known GenesSEPT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112509
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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