A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4445476



Internal ID22111655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84878780..84879842hg38UCSC Ensembl
chr12:85272559..85273621hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757926
Samples
Known GenesSLC6A15
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4445476
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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