A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416113



Internal ID22473983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123526729..123528391hg38UCSC Ensembl
chr5:122862423..122864085hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381663
hg191663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889959
Supporting Variants
Samples
Known GenesCSNK1G3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416113
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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