A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998911



Internal ID16945177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:80176118..80188217hg38UCSC Ensembl
Outerchr18:77934001..77946100hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3812100
hg1912100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953932
Supporting Variants
SamplesBILGI_BIOE
Known GenesPARD6G, PARD6G-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998911
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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