A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548148



Internal ID321929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26669212..26669225hg38UCSC Ensembl
chr11:26690759..26690772hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042664
Samples
Known GenesSLC5A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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