A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5661505



Internal ID21609810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44873900..44873900hg38UCSC Ensembl
chr17:42951268..42951268hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17089564
SamplesHG02587
Known GenesEFTUD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5661505
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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