A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983625



Internal ID18890152
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 StatusS
Merged Variantsnsv1125451
Supporting Variants
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983625
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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