A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128827



Internal ID19282923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20353956..20358056hg38UCSC Ensembl
Outerchr20:20334600..20338700hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961495
SamplesKWS1
Known GenesC20orf26
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128827
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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