A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498988



Internal ID275969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44708227..44712081hg38UCSC Ensembl
chr11:44729777..44733631hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383855
hg193855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046138
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498988
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