A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624886



Internal ID15848422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:21154471..21157207hg38UCSC Ensembl
Outerchr13:21728610..21731346hg19UCSC Ensembl
Outerchr13:20626610..20629346hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382737
hg192737
hg182737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512307
Supporting Variants
Samples1
Known GenesSKA3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624886
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