A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112348



Internal ID18926513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23663525..23794323hg38UCSC Ensembl
Outerchr20:23644162..23774960hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38130799
hg19130799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966424
SamplesKWS2
Known GenesCST1, CST4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112348
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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