A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511221



Internal ID15850646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125217527..125218067hg38UCSC Ensembl
Outerchr3:125212648..125219259hg38UCSC Ensembl
Innerchr3:124936371..124936911hg19UCSC Ensembl
Outerchr3:124931492..124938103hg19UCSC Ensembl
Innerchr3:126419061..126419601hg18UCSC Ensembl
Outerchr3:126414182..126420793hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg386612
hg196612
hg186612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626787
Samples1
Known GenesSLC12A8
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511221
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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