A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512872



Internal ID15852294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28176044..28176287hg38UCSC Ensembl
Outerchr6:28143822..28144065hg19UCSC Ensembl
Outerchr6:28251801..28252044hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg382018
hg192018
hg182018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625515
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512872
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