A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116473



Internal ID19269251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:20931240..20937132hg38UCSC Ensembl
Outerchr18:18511201..18517093hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg385893
hg195893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1557n106
Supporting Variantsnssv3978654
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116473
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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