A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15757926



Internal ID22092399
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 StatusS
Merged Variantsnsv4445476
Supporting Variants
Samples
Known GenesSLC6A15
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15757926
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer