A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047530



Internal ID99549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:50105500..50722787hg38UCSC Ensembl
chr11:50064671..50681958hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38617288
hg19617288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497778
Supporting Variants
Samples
Known GenesLOC441601, LOC646813
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001566


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