A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129663



Internal ID19274062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58688493..58688589hg38UCSC Ensembl
Outerchr20:57263549..57263645hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963951
SamplesKWS1
Known GenesSTX16-NPEPL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129663
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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