A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513006



Internal ID15505742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12413538..12413640hg38UCSC Ensembl
Outerchr10:12455537..12455639hg19UCSC Ensembl
Outerchr10:12495543..12495645hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38938
hg19938
hg18938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625663
Samples1
Known GenesCAMK1D
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513006
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer