A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116890



Internal ID21504368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41555130..41555256hg38UCSC Ensembl
chr20:40183769..40183895hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5603850
Supporting Variants
SamplesNA19239
Known GenesCHD6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116890
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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