A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058678



Internal ID106982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53470150..53471322hg38UCSC Ensembl
chr12:53863934..53865106hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502221
Supporting Variants
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007337


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