A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512802



Internal ID15505538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51709591..51709729hg38UCSC Ensembl
Outerchr3:51743607..51743745hg19UCSC Ensembl
Outerchr3:51718647..51718785hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381386
hg191386
hg181386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625436
Samples1
Known GenesGRM2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512802
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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