A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060694



Internal ID20627734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28022182..28025490hg38UCSC Ensembl
chr1:28348693..28352001hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323780
Supporting Variants
Samples
Known GenesEYA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060694
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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