A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120249



Internal ID19259213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110954997..110955053hg38UCSC Ensembl
Outerchr11:110825721..110825777hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961038
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120249
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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