A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116688



Internal ID21467679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46179973..46179973hg38UCSC Ensembl
chr20:44808612..44808612hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664572
Supporting Variants
SamplesHG03125
Known GenesCDH22
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116688
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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