A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17987743



Internal ID20554783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129838895..129839433hg38UCSC Ensembl
chr11:129708790..129709328hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469735
Supporting Variants
Samples
Known GenesTMEM45B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17987743
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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