A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512316



Internal ID15505055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377108..49379729hg38UCSC Ensembl
Outerchr13:49951244..49953865hg19UCSC Ensembl
Outerchr13:48849245..48851866hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382622
hg192622
hg182622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624896
Samples1
Known GenesCAB39L
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512316
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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