A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512255



Internal ID8819559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11873404..11874367hg38UCSC Ensembl
Outerchr12:12026338..12027301hg19UCSC Ensembl
Outerchr12:11917605..11918568hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624829
Samples1
Known GenesETV6, RNU6-19P
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512255
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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