A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116689



Internal ID21451138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46181752..46181752hg38UCSC Ensembl
chr20:44810391..44810391hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5670118
Supporting Variants
SamplesHG01505
Known GenesCDH22
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116689
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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