A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978828



Internal ID22753763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47245478..47245478hg38UCSC Ensembl
chr18:44771849..44771849hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379822
Samples
Known GenesSKOR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978828
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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