A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919103



Internal ID22694325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7798646..7905602hg38UCSC Ensembl
chr12:7951242..8058198hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38106957
hg19106957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350615
Samples
Known GenesSLC2A14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919103
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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