A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895206



Internal ID170983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202567933..202568175hg38UCSC Ensembl
chr1:202537061..202537303hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450317
Supporting Variants
Samples
Known GenesPPP1R12B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895206
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