A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18058123



Internal ID20625163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2192058..2192394hg38UCSC Ensembl
chr1:2123497..2123833hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333346
Supporting Variants
Samples
Known GenesC1orf86
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18058123
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00012


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