A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045651



Internal ID98199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34619373..34767759hg38UCSC Ensembl
chr11:34640920..34789306hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38148387
hg19148387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500005
Supporting Variants
Samples
Known GenesEHF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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