A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512256



Internal ID15851681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13391498..13399886hg38UCSC Ensembl
Outerchr12:13544432..13552820hg19UCSC Ensembl
Outerchr12:13435699..13444087hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg388389
hg198389
hg188389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624830
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)nsv512256
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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