A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970960



Internal ID22745895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44518106..44518106hg38UCSC Ensembl
chr19:45022168..45022168hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395417
Samples
Known GenesCEACAM20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970960
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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