A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440209



Internal ID22106387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172960875..172960875hg38UCSC Ensembl
chr3:172678665..172678665hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756736
Samples
Known GenesSPATA16
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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