A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449233



Internal ID22115410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6999961..6999961hg38UCSC Ensembl
chr12:7108053..7108053hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756052
Samples
Known GenesLPCAT3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449233
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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