A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18060682



Internal ID20627722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27730322..27731441hg38UCSC Ensembl
chr1:28056833..28057952hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319313
Supporting Variants
Samples
Known GenesFAM76A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18060682
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00037


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