A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702556



Internal ID126222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82880664..83048892hg38UCSC Ensembl
chr15:83549416..83717644hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38168229
hg19168229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516159
Supporting Variants
Samples
Known GenesBTBD1, C15orf40, FAM103A1, HOMER2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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