A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961418



Internal ID18858944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3269711..3269786hg38UCSC Ensembl
Outerchr1:3186275..3186350hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110989
Supporting Variants
SamplesKWS1
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961418
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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