A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507306



Internal ID284031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:130962974..130963130hg38UCSC Ensembl
chr10:132761237..132761393hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042185
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer