A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058495



Internal ID106855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50505024..50505061hg38UCSC Ensembl
chr12:50898807..50898844hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539167
Supporting Variants
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.109717


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