A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449143



Internal ID22115320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4732309..4732309hg38UCSC Ensembl
chr12:4841475..4841475hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768463
Samples
Known GenesGALNT8
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449143
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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