A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111180



Internal ID19256393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11112780..11112910hg38UCSC Ensembl
Outerchr2:11252906..11253036hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962434
SamplesKWS1
Known GenesFLJ33534
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111180
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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