A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500247



Internal ID277187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61257449..61267647hg38UCSC Ensembl
chr11:61024921..61035119hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3810199
hg1910199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046540
Samples
Known GenesVWCE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500247
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