A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125719



Internal ID19265145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21209593..21209838hg38UCSC Ensembl
Outerchr20:21190231..21190476hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993805, nssv3961996
SamplesKWS2, KWS1
Known GenesPLK1S1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125719
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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