A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13684370



Internal ID21206226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267190..16268348hg38UCSC Ensembl
chr12:16420124..16421282hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791228
Supporting Variants
Samples
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13684370
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.515625


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