A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973519



Internal ID22748454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:68777730..68777730hg38UCSC Ensembl
chr18:66444967..66444967hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402308
Samples
Known GenesCCDC102B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973519
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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