A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118664



Internal ID18918227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31536497..31538997hg38UCSC Ensembl
Outerchr20:30124300..30126800hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959178
SamplesKWS1
Known GenesHM13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118664
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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