A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952994



Internal ID17301868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17681256..17682455hg38UCSC Ensembl
Outerchr20:17661901..17663100hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999930
SamplesBILGI_BIOE
Known GenesRRBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952994
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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