A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559668



Internal ID332695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:158099282..158099282hg38UCSC Ensembl
chr3:157817071..157817071hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941936
Samples
Known GenesSHOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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