A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912951



Internal ID22688167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57304632..57304827hg38UCSC Ensembl
chr11:57072106..57072301hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351953
Samples
Known GenesTNKS1BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912951
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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