A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101305



Internal ID21511184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54123008..54123008hg38UCSC Ensembl
chr18:51649378..51649378hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658290
Supporting Variants
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101305
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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