A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973997



Internal ID22748932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36055104..36055104hg38UCSC Ensembl
chr11:36076654..36076654hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365474
Samples
Known GenesLDLRAD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973997
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