A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138919



Internal ID18903748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9293306..9293435hg38UCSC Ensembl
Outerchr20:9273953..9274082hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991533
SamplesKWS2
Known GenesPLCB4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138919
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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