A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554668



Internal ID327847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76132636..76132687hg38UCSC Ensembl
chr11:75843680..75843731hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048519
Samples
Known GenesUVRAG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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