A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626351



Internal ID15849884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112292362..112295458hg38UCSC Ensembl
Outerchr1:112834984..112838080hg19UCSC Ensembl
Outerchr1:112636507..112639603hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383097
hg193097
hg183097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511710
Supporting Variants
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)nssv626351
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