A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045548



Internal ID98125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59830349..59835335hg38UCSC Ensembl
chr11:59597822..59602808hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384987
hg194987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502456
Supporting Variants
Samples
Known GenesGIF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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