A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382621



Internal ID22440491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24856378..24856507hg38UCSC Ensembl
chr16:24867699..24867828hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943003
Supporting Variants
Samples
Known GenesSLC5A11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382621
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