A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618094



Internal ID21566399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233383384..233383384hg38UCSC Ensembl
chr1:233519130..233519130hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063084
SamplesHG00732
Known GenesKIAA1804
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618094
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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