A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18055536



Internal ID20622576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192808201..192809300hg38UCSC Ensembl
chr1:192777331..192778430hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334199
Supporting Variants
Samples
Known GenesRGS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18055536
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00042


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