A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17993427



Internal ID20560468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57304632..57304828hg38UCSC Ensembl
chr11:57072106..57072302hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460528
Supporting Variants
Samples
Known GenesTNKS1BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17993427
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00012


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