A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511132



Internal ID15503871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103562856..103595065hg38UCSC Ensembl
Outerchr1:103560435..103595478hg38UCSC Ensembl
Innerchr1:104105478..104137687hg19UCSC Ensembl
Outerchr1:104103057..104138100hg19UCSC Ensembl
Innerchr1:103907001..103939210hg18UCSC Ensembl
Outerchr1:103904580..103939623hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3835044
hg1935044
hg1835044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626698
Samples1
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511132
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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