A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976383



Internal ID18898081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3319936..3322336hg38UCSC Ensembl
Outerchr1:3236500..3238900hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115331
Supporting Variants
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976383
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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