A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952993



Internal ID17301867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17611256..17654655hg38UCSC Ensembl
Outerchr20:17591901..17635300hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3843400
hg1943400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999929
SamplesBILGI_BIOE
Known GenesRRBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952993
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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