A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114495



Internal ID21503320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5706133..5706133hg38UCSC Ensembl
chr2:5846265..5846265hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608932
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114495
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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