A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109764



Internal ID21467835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171269848..171269848hg38UCSC Ensembl
chr2:172126358..172126358hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606341
Supporting Variants
SamplesHG03125
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109764
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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