A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101252



Internal ID21499670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48391530..48391530hg38UCSC Ensembl
chr18:45917901..45917901hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650436
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101252
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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