A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511673



Internal ID15504412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3299043..3301124hg38UCSC Ensembl
Outerchr1:3215607..3217688hg19UCSC Ensembl
Outerchr1:3205467..3207548hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382082
hg192082
hg182082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626311
Samples1
Known GenesPRDM16
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511673
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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