A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439912



Internal ID22106089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45645619..45645619hg38UCSC Ensembl
chr18:43225584..43225584hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756498
Samples
Known GenesSLC14A2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439912
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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