A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111512



Internal ID21294778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112644593..112647888hg38UCSC Ensembl
Innerchr2:113402170..113405465hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383296
hg193296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104627
Samplessample139
Known GenesSLC20A1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111512
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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