A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905992



Internal ID22681186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157631720..157631997hg38UCSC Ensembl
chr5:157058728..157059005hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424137
Samples
Known GenesSOX30
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905992
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