A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997765



Internal ID16944031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68216673..68226572hg38UCSC Ensembl
Outerchr5:67512501..67522400hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950076
Supporting Variants
SamplesBILGI_BIOE
Known GenesPIK3R1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997765
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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