A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512734



Internal ID15852156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32986395..32986807hg38UCSC Ensembl
Outerchr1:33451996..33452408hg19UCSC Ensembl
Outerchr1:33224583..33224995hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381495
hg191495
hg181495
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625360
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)nsv512734
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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