A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511629



Internal ID15504368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1914283..1914959hg38UCSC Ensembl
Outerchr20:1913689..1915094hg38UCSC Ensembl
Innerchr20:1894929..1895605hg19UCSC Ensembl
Outerchr20:1894335..1895740hg19UCSC Ensembl
Innerchr20:1842929..1843605hg18UCSC Ensembl
Outerchr20:1842335..1843740hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381406
hg191406
hg181406
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626262
Samples1
Known GenesSIRPA
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511629
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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