A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046559



Internal ID98849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61426899..61427524hg38UCSC Ensembl
chr11:61194371..61194996hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506703
Supporting Variants
Samples
Known GenesCPSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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