A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15706755



Internal ID21379031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106175247..106175636hg38UCSC Ensembl
chr2:106791703..106792092hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389847
Supporting Variants
Samples
Known GenesUXS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15706755
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00862069


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