A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688412



Internal ID112078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75819021..75819072hg38UCSC Ensembl
chr11:75530066..75530117hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558582
Supporting Variants
Samples
Known GenesUVRAG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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