A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15703933



Internal ID21376209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133424631..133426224hg38UCSC Ensembl
chr6:133745769..133747362hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4392648
Supporting Variants
Samples
Known GenesEYA4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15703933
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.12931


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