A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591460



Internal ID16378869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125212648..125217950hg38UCSC Ensembl
Innerchr3:124931492..124936794hg19UCSC Ensembl
Innerchr3:126414182..126419484hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg385303
hg195303
hg185303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971890
Samples
Known GenesSLC12A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591460
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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