A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440549



Internal ID22106727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193511660..193511660hg38UCSC Ensembl
chr3:193229449..193229449hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760463
Samples
Known GenesATP13A4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440549
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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