A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512851



Internal ID15852273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43541136..43541343hg38UCSC Ensembl
Outerchr5:43541238..43541445hg19UCSC Ensembl
Outerchr5:43576995..43577202hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381005
hg191005
hg181005
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625492
Samples1
Known GenesPAIP1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512851
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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