A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974030



Internal ID22748965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49424778..49424778hg38UCSC Ensembl
chr17:47502140..47502140hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387693
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974030
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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