A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438164



Internal ID22104345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004911..231004911hg38UCSC Ensembl
chr2:231869626..231869626hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761478
Samples
Known GenesSPATA3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438164
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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