A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999957



Internal ID17292909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:30185225..30272424hg38UCSC Ensembl
Outerchr20:29419901..29507100hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3887200
hg1987200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954017
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999957
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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