A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350615



Internal ID22576284
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 StatusS
Merged Variantsnsv5919103
Supporting Variants
Samples
Known GenesSLC2A14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350615
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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