A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125450



Internal ID18904411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181169..3181345hg38UCSC Ensembl
Outerchr1:3097733..3097909hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983624
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125450
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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