A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382204



Internal ID22440074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43105457..43105457hg38UCSC Ensembl
chr18:40685422..40685422hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975058
Supporting Variants
Samples
Known GenesRIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382204
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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