A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512271



Internal ID15851696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42650122..42652764hg38UCSC Ensembl
Outerchr12:43043924..43046566hg19UCSC Ensembl
Outerchr12:41330191..41332833hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382643
hg192643
hg182643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624847
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512271
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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