A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18138794



Internal ID20705834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133301859..133302453hg38UCSC Ensembl
chr6:133622997..133623591hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6613054
Supporting Variants
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18138794
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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