A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986445



Internal ID58396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112101413..112103231hg38UCSC Ensembl
chr6:112422616..112424434hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5473434
Supporting Variants
Samples
Known GenesFAM229B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986445
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