A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395828



Internal ID22453698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102421978..102422033hg38UCSC Ensembl
chr2:103038438..103038493hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880835
Supporting Variants
Samples
Known GenesIL18RAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395828
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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