A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185236



Internal ID20752276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:112346501..112379600hg38UCSC Ensembl
chr10:114106259..114139358hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3833100
hg1933100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6445078
Supporting Variants
Samples
Known GenesACSL5, GUCY2GP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185236
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00027


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