A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405642



Internal ID22463512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9344530..9344530hg38UCSC Ensembl
chr18:9344528..9344528hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968123
Supporting Variants
Samples
Known GenesTWSG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405642
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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