A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051446



Internal ID102154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121295111..121295162hg38UCSC Ensembl
chr11:121165820..121165871hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555761
Supporting Variants
Samples
Known GenesSC5D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051446
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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