A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513232



Internal ID15505968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42628103..42631368hg38UCSC Ensembl
Outerchr5:42628205..42631470hg19UCSC Ensembl
Outerchr5:42663962..42667227hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383266
hg193266
hg183266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626736
Samples1
Known GenesGHR
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513232
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