A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111509



Internal ID21494913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230605632..230605632hg38UCSC Ensembl
chr2:231470347..231470347hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606618
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111509
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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