A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511147



Internal ID15503886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638247..179638801hg38UCSC Ensembl
Outerchr1:179637022..179639326hg38UCSC Ensembl
Innerchr1:179607382..179607936hg19UCSC Ensembl
Outerchr1:179606157..179608461hg19UCSC Ensembl
Innerchr1:177874005..177874559hg18UCSC Ensembl
Outerchr1:177872780..177875084hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382305
hg192305
hg182305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625935
Samples1
Known GenesTDRD5
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511147
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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