A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511601



Internal ID15851026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5294903..5296461hg38UCSC Ensembl
Outerchr18:5292984..5297604hg38UCSC Ensembl
Innerchr18:5294902..5296460hg19UCSC Ensembl
Outerchr18:5292983..5297603hg19UCSC Ensembl
Innerchr18:5284902..5286460hg18UCSC Ensembl
Outerchr18:5282983..5287603hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384621
hg194621
hg184621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626230
Samples1
Known GenesZBTB14
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511601
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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