A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511704



Internal ID288276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12832980..12833149hg38UCSC Ensembl
chr12:12985914..12986083hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053227
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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