A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093593



Internal ID21501094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47438441..47438441hg38UCSC Ensembl
chr12:47832224..47832224hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5657911
Supporting Variants
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17093593
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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