A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142909



Internal ID18928769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:4437818..4437989hg38UCSC Ensembl
Outerchr18:4437818..4437989hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979681, nssv3963874
SamplesKWS1, KWS2
Known GenesDLGAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142909
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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