A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499761



Internal ID276720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11603365..11606425hg38UCSC Ensembl
chr12:11756299..11759359hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383061
hg193061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055883
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499761
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