A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830389



Internal ID22605324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54078234..54082720hg38UCSC Ensembl
chr1:54543907..54548393hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384487
hg194487
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480102
Samples
Known GenesTCEANC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830389
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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