A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975187



Internal ID22750122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9989055..9989055hg38UCSC Ensembl
chr11:10010602..10010602hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355850
Samples
Known GenesSBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975187
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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