A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15766454



Internal ID22100927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139583491..139583491hg38UCSC Ensembl
chr3:139302333..139302333hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4439952
Supporting Variants
Samples
Known GenesNMNAT3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15766454
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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