A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120559



Internal ID18931271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25217016..25217073hg38UCSC Ensembl
Outerchr8:25074532..25074589hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962194
SamplesKWS1
Known GenesDOCK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120559
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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