A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125451



Internal ID18933682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181743..3181809hg38UCSC Ensembl
Outerchr1:3098307..3098373hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983625
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125451
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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