A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938451



Internal ID22713831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40825741..40833005hg38UCSC Ensembl
chr17:38981993..38989257hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387265
hg197265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378545
Samples
Known GenesTMEM99
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938451
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