A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511648



Internal ID15851073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50028638..50029046hg38UCSC Ensembl
Outerchr22:50026568..50030478hg38UCSC Ensembl
Innerchr22:50467067..50467475hg19UCSC Ensembl
Outerchr22:50464997..50468907hg19UCSC Ensembl
Innerchr22:48809194..48809602hg18UCSC Ensembl
Outerchr22:48807124..48811034hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383911
hg193911
hg183911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626283
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511648
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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