A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512728



Internal ID15505464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:27878180..27878458hg38UCSC Ensembl
Outerchr1:28204691..28204969hg19UCSC Ensembl
Outerchr1:28077278..28077556hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381298
hg191298
hg181298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625353
Samples1
Known GenesTHEMIS2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512728
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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