A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142913



Internal ID19283257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22740295..22740365hg38UCSC Ensembl
Outerchr18:20320258..20320328hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1565n106
Supporting Variantsnssv3979684
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142913
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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