A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479115



Internal ID256650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:34573872..34600406hg38UCSC Ensembl
chr10:34862800..34889334hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3826535
hg1926535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17033075
Samples
Known GenesPARD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479115
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