A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513734



Internal ID15506469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:178398576..178439042hg38UCSC Ensembl
Outerchr3:178116364..178156830hg19UCSC Ensembl
Outerchr3:179599058..179639524hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3840467
hg1940467
hg1840467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626986
Samples1
Known GenesLINC01014
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513734
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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