A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17036418



Internal ID92026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89450402..89450453hg38UCSC Ensembl
chr10:91210159..91210210hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402919
Supporting Variants
Samples
Known GenesSLC16A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17036418
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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