A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054725



Internal ID104313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7859898..7995527hg38UCSC Ensembl
chr12:8012494..8148123hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38135630
hg19135630
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554470
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054725
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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