A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997167



Internal ID16943433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84144118..84150317hg38UCSC Ensembl
Outerchr1:84609801..84616000hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950200
Supporting Variants
SamplesBILGI_BIOE
Known GenesPRKACB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997167
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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