A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142983



Internal ID19281536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1277642..1277819hg38UCSC Ensembl
Outerchr20:1258286..1258463hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979752
SamplesKWS2
Known GenesSNPH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142983
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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