A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120468



Internal ID19280554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198072041..198072135hg38UCSC Ensembl
Outerchr3:197798912..197799006hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962063
SamplesKWS1
Known GenesANKRD18DP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120468
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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