A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499342



Internal ID276316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116668059..116733013hg38UCSC Ensembl
chr10:118427570..118492524hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3864955
hg1964955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040699
Samples
Known GenesC10orf82, HSPA12A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499342
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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