A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536153



Internal ID311694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40051827..40051878hg38UCSC Ensembl
chr12:40445629..40445680hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058432
Samples
Known GenesSLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536153
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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