A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17116206



Internal ID21422449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2727789..2727789hg38UCSC Ensembl
chr20:2708435..2708435hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383706
hg193706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5648898
Supporting Variants
SamplesHG00731
Known GenesEBF4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17116206
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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