A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040734



Internal ID94866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:117230330..117231547hg38UCSC Ensembl
chr10:118989841..118991058hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg381218
hg191218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503890
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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