A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449339



Internal ID22115516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171866599..171866599hg38UCSC Ensembl
chr2:172723109..172723109hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760736
Samples
Known GenesSLC25A12
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449339
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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