A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748032



Internal ID21386186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267190..16268349hg38UCSC Ensembl
chr12:16420124..16421283hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4431703
Supporting Variants
SamplesMDQ010
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748032
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer