A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047351



Internal ID99413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46588667..46595379hg38UCSC Ensembl
chr11:46610217..46616929hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386713
hg196713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509351
Supporting Variants
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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