A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120346



Internal ID19268627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:20931583..20937463hg38UCSC Ensembl
Outerchr18:18511544..18517424hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg385881
hg195881
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961922
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120346
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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