A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361959



Internal ID22587628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118076122..118161777hg38UCSC Ensembl
chr11:117946837..118032492hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3885656
hg1985656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5915591
Supporting Variants
Samples
Known GenesSCN4B, TMPRSS4, TMPRSS4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361959
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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