A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047788



Internal ID99718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60200830..60201043hg38UCSC Ensembl
chr11:59968303..59968516hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504193
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047788
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007961


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