A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978513



Internal ID18886844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181388..3181553hg38UCSC Ensembl
Outerchr1:3097952..3098117hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115951
Supporting Variants
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978513
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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