A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449069



Internal ID22115246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4243729..4243729hg38UCSC Ensembl
chr12:4352895..4352895hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761362
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449069
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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