A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513445



Internal ID15506181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10039944..10040019hg38UCSC Ensembl
Outerchr16:10133801..10133876hg19UCSC Ensembl
Outerchr16:10041302..10041377hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38918
hg19918
hg18918
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625848
Samples1
Known GenesGRIN2A
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513445
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