A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505229



Internal ID282011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62475146..62477645hg38UCSC Ensembl
chr11:62242618..62245117hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047847
Samples
Known GenesAHNAK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505229
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