A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512711



Internal ID15505447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3351502..3351542hg38UCSC Ensembl
Outerchr1:3268066..3268106hg19UCSC Ensembl
Outerchr1:3257926..3257966hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38968
hg19968
hg18968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625335
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)nsv512711
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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