A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392012



Internal ID22449882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93242244..93244088hg38UCSC Ensembl
chr1:93707801..93709645hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883954
Supporting Variants
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392012
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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