A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116184



Internal ID21495705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36947555..36947555hg38UCSC Ensembl
chr20:35575958..35575958hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5669689
Supporting Variants
SamplesNA19238
Known GenesSAMHD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116184
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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