A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350150



Internal ID22575819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130566993..131257127hg38UCSC Ensembl
chr11:130436888..131127022hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38690135
hg19690135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911858
Supporting Variants
Samples
Known GenesC11orf44, MIR8052, SNX19
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350150
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