A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111246



Internal ID18929035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72588938..72590362hg38UCSC Ensembl
Outerchr3:72638089..72639513hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962530
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111246
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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