A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108801



Internal ID21465320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148576028..148576028hg38UCSC Ensembl
chr2:149333597..149333597hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5604647
Supporting Variants
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108801
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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