A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6612287



Internal ID20985358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133515708..133516839hg38UCSC Ensembl
chr6:133836846..133837977hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18139376
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6612287
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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