A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511419



Internal ID15504158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69126301..69128184hg38UCSC Ensembl
Outerchr9:69118687..69131337hg38UCSC Ensembl
Innerchr9:71741217..71743100hg19UCSC Ensembl
Outerchr9:71733603..71746253hg19UCSC Ensembl
Innerchr9:70931037..70932920hg18UCSC Ensembl
Outerchr9:70923423..70936073hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3812651
hg1912651
hg1812651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626028
Samples1
Known GenesTJP2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511419
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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