A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625746



Internal ID15502593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6999597..7001429hg38UCSC Ensembl
Outerchr12:7107689..7108734hg19UCSC Ensembl
Outerchr12:6977950..6978995hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381018
hg191018
hg181018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513353
Supporting Variants
Samples1
Known GenesLPCAT3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625746
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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