A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989017



Internal ID60103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152135853..152135937hg38UCSC Ensembl
chr6:152456988..152457072hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459228
Supporting Variants
Samples
Known GenesSYNE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989017
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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