A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041247



Internal ID95202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:130028963..130558602hg38UCSC Ensembl
chr10:131827227..132356866hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38529640
hg19529640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506975
Supporting Variants
Samples
Known GenesCTAGE7P, GLRX3, LINC00959
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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