A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791228



Internal ID21236567
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 StatusM
Merged Variants
Supporting Variantsnssv13684370
Samples
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791228
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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