A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975874



Internal ID22750809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57915232..57915232hg38UCSC Ensembl
chr17:55992593..55992593hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379903
Samples
Known GenesCUEDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975874
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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