A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549803



Internal ID323421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62858360..62858410hg38UCSC Ensembl
chr11:62625832..62625882hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047885
Samples
Known GenesSLC3A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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