A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046988



Internal ID99166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57508006..57509356hg38UCSC Ensembl
chr11:57275479..57276829hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507156
Supporting Variants
Samples
Known GenesSLC43A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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