A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111210



Internal ID19284637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39884376..39884473hg38UCSC Ensembl
Outerchr20:38513018..38513115hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962476
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111210
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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