A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499838



Internal ID276793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103167084..103248527hg38UCSC Ensembl
chr10:104926841..105008284hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3881444
hg1981444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039989
Samples
Known GenesLOC729020, NT5C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499838
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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