A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912687



Internal ID22687903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116904904..116905223hg38UCSC Ensembl
chr10:118664415..118664734hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367682
Samples
Known GenesKIAA1598
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912687
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